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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs58847683

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:13284518-13284544 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)13 / del(A)12 / del(A)11 / d…

del(A)13 / del(A)12 / del(A)11 / del(A)10 / del(A)9 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)13 / dup(A)19 / dup(A)21

Variation Type
Indel Insertion and Deletion
Frequency
del(A)8=0.4269 (2138/5008, 1000G)
del(A)13=0.0000 (0/4642, ALFA)
del(A)12=0.0000 (0/4642, ALFA) (+ 19 more)
del(A)11=0.0000 (0/4642, ALFA)
del(A)10=0.0000 (0/4642, ALFA)
del(A)9=0.0000 (0/4642, ALFA)
del(A)8=0.0000 (0/4642, ALFA)
del(A)7=0.0000 (0/4642, ALFA)
del(A)6=0.0000 (0/4642, ALFA)
del(A)5=0.0000 (0/4642, ALFA)
del(A)4=0.0000 (0/4642, ALFA)
delAAA=0.0000 (0/4642, ALFA)
delAA=0.0000 (0/4642, ALFA)
delA=0.0000 (0/4642, ALFA)
dupA=0.0000 (0/4642, ALFA)
dupAA=0.0000 (0/4642, ALFA)
dupAAA=0.0000 (0/4642, ALFA)
dup(A)4=0.0000 (0/4642, ALFA)
dup(A)5=0.0000 (0/4642, ALFA)
dup(A)6=0.0000 (0/4642, ALFA)
dup(A)7=0.0000 (0/4642, ALFA)
dup(A)8=0.0000 (0/4642, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PHACTR1 : Intron Variant
TBC1D7-LOC100130357 : Intron Variant
LOC100130357 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 4642 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 2448 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1632 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 70 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1562 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 64 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 52 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 44 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 230 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 46 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 178 AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
1000Genomes Global Study-wide 5008 (A)27=0.5731 del(A)8=0.4269
1000Genomes African Sub 1322 (A)27=0.5053 del(A)8=0.4947
1000Genomes East Asian Sub 1008 (A)27=0.3909 del(A)8=0.6091
1000Genomes Europe Sub 1006 (A)27=0.7256 del(A)8=0.2744
1000Genomes South Asian Sub 978 (A)27=0.612 del(A)8=0.388
1000Genomes American Sub 694 (A)27=0.690 del(A)8=0.310
Allele Frequency Aggregator Total Global 4642 (A)27=1.0000 del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000, dup(A)7=0.0000, dup(A)8=0.0000
Allele Frequency Aggregator European Sub 2448 (A)27=1.0000 del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000, dup(A)7=0.0000, dup(A)8=0.0000
Allele Frequency Aggregator African Sub 1632 (A)27=1.0000 del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000, dup(A)7=0.0000, dup(A)8=0.0000
Allele Frequency Aggregator Latin American 2 Sub 230 (A)27=1.000 del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)8=0.000
Allele Frequency Aggregator Other Sub 178 (A)27=1.000 del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)5=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)8=0.000
Allele Frequency Aggregator Asian Sub 64 (A)27=1.00 del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00
Allele Frequency Aggregator South Asian Sub 46 (A)27=1.00 del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00
Allele Frequency Aggregator Latin American 1 Sub 44 (A)27=1.00 del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)5=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 6 NC_000006.12:g.13284532_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284533_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284534_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284535_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284536_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284537_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284538_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284539_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284540_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284541_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284542_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284543_13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284544del
GRCh38.p14 chr 6 NC_000006.12:g.13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284543_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284542_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284541_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284540_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284539_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284538_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284537_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284536_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284535_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284534_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284532_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284526_13284544dup
GRCh38.p14 chr 6 NC_000006.12:g.13284524_13284544dup
GRCh37.p13 chr 6 NC_000006.11:g.13284764_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284765_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284766_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284767_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284768_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284769_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284770_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284771_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284772_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284773_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284774_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284775_13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284776del
GRCh37.p13 chr 6 NC_000006.11:g.13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284775_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284774_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284773_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284772_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284771_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284770_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284769_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284768_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284767_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284766_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284764_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284758_13284776dup
GRCh37.p13 chr 6 NC_000006.11:g.13284756_13284776dup
Gene: PHACTR1, phosphatase and actin regulator 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PHACTR1 transcript variant 2 NM_001242648.4:c.1650+970…

NM_001242648.4:c.1650+970_1650+982del

N/A Intron Variant
PHACTR1 transcript variant 3 NM_001322308.3:c.1650+970…

NM_001322308.3:c.1650+970_1650+982del

N/A Intron Variant
PHACTR1 transcript variant 4 NM_001322309.3:c.1650+970…

NM_001322309.3:c.1650+970_1650+982del

N/A Intron Variant
PHACTR1 transcript variant 5 NM_001322310.2:c.1857+970…

NM_001322310.2:c.1857+970_1857+982del

N/A Intron Variant
PHACTR1 transcript variant 6 NM_001322311.2:c.1374+970…

NM_001322311.2:c.1374+970_1374+982del

N/A Intron Variant
PHACTR1 transcript variant 7 NM_001322312.3:c.1374+970…

NM_001322312.3:c.1374+970_1374+982del

N/A Intron Variant
PHACTR1 transcript variant 8 NM_001322313.2:c.1581+970…

NM_001322313.2:c.1581+970_1581+982del

N/A Intron Variant
PHACTR1 transcript variant 9 NM_001322314.4:c.1860+970…

NM_001322314.4:c.1860+970_1860+982del

N/A Intron Variant
PHACTR1 transcript variant 10 NM_001374581.2:c.1650+970…

NM_001374581.2:c.1650+970_1650+982del

N/A Intron Variant
PHACTR1 transcript variant 12 NM_001374583.2:c.1374+970…

NM_001374583.2:c.1374+970_1374+982del

N/A Intron Variant
PHACTR1 transcript variant 1 NM_030948.6:c.1650+970_16…

NM_030948.6:c.1650+970_1650+982del

N/A Intron Variant
PHACTR1 transcript variant 11 NM_001374582.1:c. N/A Genic Downstream Transcript Variant
PHACTR1 transcript variant 13 NM_001374584.1:c. N/A Genic Downstream Transcript Variant
PHACTR1 transcript variant X1 XM_005248934.4:c.1857+970…

XM_005248934.4:c.1857+970_1857+982del

N/A Intron Variant
PHACTR1 transcript variant X5 XM_017010458.3:c.1653+970…

XM_017010458.3:c.1653+970_1653+982del

N/A Intron Variant
PHACTR1 transcript variant X6 XM_017010459.3:c.1650+970…

XM_017010459.3:c.1650+970_1650+982del

N/A Intron Variant
PHACTR1 transcript variant X7 XM_017010464.3:c.1653+970…

XM_017010464.3:c.1653+970_1653+982del

N/A Intron Variant
PHACTR1 transcript variant X2 XM_047418372.1:c.1857+970…

XM_047418372.1:c.1857+970_1857+982del

N/A Intron Variant
PHACTR1 transcript variant X3 XM_047418373.1:c.1857+970…

XM_047418373.1:c.1857+970_1857+982del

N/A Intron Variant
PHACTR1 transcript variant X4 XM_047418374.1:c.1857+970…

XM_047418374.1:c.1857+970_1857+982del

N/A Intron Variant
PHACTR1 transcript variant X8 XM_047418375.1:c.1581+970…

XM_047418375.1:c.1581+970_1581+982del

N/A Intron Variant
Gene: TBC1D7-LOC100130357, TBC1D7-LOC100130357 readthrough (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TBC1D7-LOC100130357 transcript variant 1 NM_001318809.2:c.*40-1669…

NM_001318809.2:c.*40-16695_*40-16683del

N/A Intron Variant
TBC1D7-LOC100130357 transcript variant 2 NR_134872.2:n. N/A Intron Variant
Gene: LOC100130357, uncharacterized LOC100130357 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100130357 transcript variant 1 NR_160971.1:n. N/A Intron Variant
LOC100130357 transcript variant 2 NR_134859.1:n. N/A Genic Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)27= del(A)13 del(A)12 del(A)11 del(A)10 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)13 dup(A)19 dup(A)21
GRCh38.p14 chr 6 NC_000006.12:g.13284518_13284544= NC_000006.12:g.13284532_13284544del NC_000006.12:g.13284533_13284544del NC_000006.12:g.13284534_13284544del NC_000006.12:g.13284535_13284544del NC_000006.12:g.13284536_13284544del NC_000006.12:g.13284537_13284544del NC_000006.12:g.13284538_13284544del NC_000006.12:g.13284539_13284544del NC_000006.12:g.13284540_13284544del NC_000006.12:g.13284541_13284544del NC_000006.12:g.13284542_13284544del NC_000006.12:g.13284543_13284544del NC_000006.12:g.13284544del NC_000006.12:g.13284544dup NC_000006.12:g.13284543_13284544dup NC_000006.12:g.13284542_13284544dup NC_000006.12:g.13284541_13284544dup NC_000006.12:g.13284540_13284544dup NC_000006.12:g.13284539_13284544dup NC_000006.12:g.13284538_13284544dup NC_000006.12:g.13284537_13284544dup NC_000006.12:g.13284536_13284544dup NC_000006.12:g.13284535_13284544dup NC_000006.12:g.13284534_13284544dup NC_000006.12:g.13284532_13284544dup NC_000006.12:g.13284526_13284544dup NC_000006.12:g.13284524_13284544dup
GRCh37.p13 chr 6 NC_000006.11:g.13284750_13284776= NC_000006.11:g.13284764_13284776del NC_000006.11:g.13284765_13284776del NC_000006.11:g.13284766_13284776del NC_000006.11:g.13284767_13284776del NC_000006.11:g.13284768_13284776del NC_000006.11:g.13284769_13284776del NC_000006.11:g.13284770_13284776del NC_000006.11:g.13284771_13284776del NC_000006.11:g.13284772_13284776del NC_000006.11:g.13284773_13284776del NC_000006.11:g.13284774_13284776del NC_000006.11:g.13284775_13284776del NC_000006.11:g.13284776del NC_000006.11:g.13284776dup NC_000006.11:g.13284775_13284776dup NC_000006.11:g.13284774_13284776dup NC_000006.11:g.13284773_13284776dup NC_000006.11:g.13284772_13284776dup NC_000006.11:g.13284771_13284776dup NC_000006.11:g.13284770_13284776dup NC_000006.11:g.13284769_13284776dup NC_000006.11:g.13284768_13284776dup NC_000006.11:g.13284767_13284776dup NC_000006.11:g.13284766_13284776dup NC_000006.11:g.13284764_13284776dup NC_000006.11:g.13284758_13284776dup NC_000006.11:g.13284756_13284776dup
PHACTR1 transcript variant 2 NM_001242648.1:c.1650+956= NM_001242648.1:c.1650+970_1650+982del NM_001242648.1:c.1650+971_1650+982del NM_001242648.1:c.1650+972_1650+982del NM_001242648.1:c.1650+973_1650+982del NM_001242648.1:c.1650+974_1650+982del NM_001242648.1:c.1650+975_1650+982del NM_001242648.1:c.1650+976_1650+982del NM_001242648.1:c.1650+977_1650+982del NM_001242648.1:c.1650+978_1650+982del NM_001242648.1:c.1650+979_1650+982del NM_001242648.1:c.1650+980_1650+982del NM_001242648.1:c.1650+981_1650+982del NM_001242648.1:c.1650+982del NM_001242648.1:c.1650+982dup NM_001242648.1:c.1650+981_1650+982dup NM_001242648.1:c.1650+980_1650+982dup NM_001242648.1:c.1650+979_1650+982dup NM_001242648.1:c.1650+978_1650+982dup NM_001242648.1:c.1650+977_1650+982dup NM_001242648.1:c.1650+976_1650+982dup NM_001242648.1:c.1650+975_1650+982dup NM_001242648.1:c.1650+974_1650+982dup NM_001242648.1:c.1650+973_1650+982dup NM_001242648.1:c.1650+972_1650+982dup NM_001242648.1:c.1650+970_1650+982dup NM_001242648.1:c.1650+964_1650+982dup NM_001242648.1:c.1650+962_1650+982dup
PHACTR1 transcript variant 2 NM_001242648.4:c.1650+956= NM_001242648.4:c.1650+970_1650+982del NM_001242648.4:c.1650+971_1650+982del NM_001242648.4:c.1650+972_1650+982del NM_001242648.4:c.1650+973_1650+982del NM_001242648.4:c.1650+974_1650+982del NM_001242648.4:c.1650+975_1650+982del NM_001242648.4:c.1650+976_1650+982del NM_001242648.4:c.1650+977_1650+982del NM_001242648.4:c.1650+978_1650+982del NM_001242648.4:c.1650+979_1650+982del NM_001242648.4:c.1650+980_1650+982del NM_001242648.4:c.1650+981_1650+982del NM_001242648.4:c.1650+982del NM_001242648.4:c.1650+982dup NM_001242648.4:c.1650+981_1650+982dup NM_001242648.4:c.1650+980_1650+982dup NM_001242648.4:c.1650+979_1650+982dup NM_001242648.4:c.1650+978_1650+982dup NM_001242648.4:c.1650+977_1650+982dup NM_001242648.4:c.1650+976_1650+982dup NM_001242648.4:c.1650+975_1650+982dup NM_001242648.4:c.1650+974_1650+982dup NM_001242648.4:c.1650+973_1650+982dup NM_001242648.4:c.1650+972_1650+982dup NM_001242648.4:c.1650+970_1650+982dup NM_001242648.4:c.1650+964_1650+982dup NM_001242648.4:c.1650+962_1650+982dup
LOC100130357 transcript variant 1 NM_001242698.1:c.141-2965= NM_001242698.1:c.141-2977_141-2965del NM_001242698.1:c.141-2976_141-2965del NM_001242698.1:c.141-2975_141-2965del NM_001242698.1:c.141-2974_141-2965del NM_001242698.1:c.141-2973_141-2965del NM_001242698.1:c.141-2972_141-2965del NM_001242698.1:c.141-2971_141-2965del NM_001242698.1:c.141-2970_141-2965del NM_001242698.1:c.141-2969_141-2965del NM_001242698.1:c.141-2968_141-2965del NM_001242698.1:c.141-2967_141-2965del NM_001242698.1:c.141-2966_141-2965del NM_001242698.1:c.141-2965del NM_001242698.1:c.141-2965dup NM_001242698.1:c.141-2966_141-2965dup NM_001242698.1:c.141-2967_141-2965dup NM_001242698.1:c.141-2968_141-2965dup NM_001242698.1:c.141-2969_141-2965dup NM_001242698.1:c.141-2970_141-2965dup NM_001242698.1:c.141-2971_141-2965dup NM_001242698.1:c.141-2972_141-2965dup NM_001242698.1:c.141-2973_141-2965dup NM_001242698.1:c.141-2974_141-2965dup NM_001242698.1:c.141-2975_141-2965dup NM_001242698.1:c.141-2977_141-2965dup NM_001242698.1:c.141-2983_141-2965dup NM_001242698.1:c.141-2985_141-2965dup
TBC1D7-LOC100130357 transcript variant 1 NM_001318809.2:c.*40-16683= NM_001318809.2:c.*40-16695_*40-16683del NM_001318809.2:c.*40-16694_*40-16683del NM_001318809.2:c.*40-16693_*40-16683del NM_001318809.2:c.*40-16692_*40-16683del NM_001318809.2:c.*40-16691_*40-16683del NM_001318809.2:c.*40-16690_*40-16683del NM_001318809.2:c.*40-16689_*40-16683del NM_001318809.2:c.*40-16688_*40-16683del NM_001318809.2:c.*40-16687_*40-16683del NM_001318809.2:c.*40-16686_*40-16683del NM_001318809.2:c.*40-16685_*40-16683del NM_001318809.2:c.*40-16684_*40-16683del NM_001318809.2:c.*40-16683del NM_001318809.2:c.*40-16683dup NM_001318809.2:c.*40-16684_*40-16683dup NM_001318809.2:c.*40-16685_*40-16683dup NM_001318809.2:c.*40-16686_*40-16683dup NM_001318809.2:c.*40-16687_*40-16683dup NM_001318809.2:c.*40-16688_*40-16683dup NM_001318809.2:c.*40-16689_*40-16683dup NM_001318809.2:c.*40-16690_*40-16683dup NM_001318809.2:c.*40-16691_*40-16683dup NM_001318809.2:c.*40-16692_*40-16683dup NM_001318809.2:c.*40-16693_*40-16683dup NM_001318809.2:c.*40-16695_*40-16683dup NM_001318809.2:c.*40-16701_*40-16683dup NM_001318809.2:c.*40-16703_*40-16683dup
PHACTR1 transcript variant 3 NM_001322308.3:c.1650+956= NM_001322308.3:c.1650+970_1650+982del NM_001322308.3:c.1650+971_1650+982del NM_001322308.3:c.1650+972_1650+982del NM_001322308.3:c.1650+973_1650+982del NM_001322308.3:c.1650+974_1650+982del NM_001322308.3:c.1650+975_1650+982del NM_001322308.3:c.1650+976_1650+982del NM_001322308.3:c.1650+977_1650+982del NM_001322308.3:c.1650+978_1650+982del NM_001322308.3:c.1650+979_1650+982del NM_001322308.3:c.1650+980_1650+982del NM_001322308.3:c.1650+981_1650+982del NM_001322308.3:c.1650+982del NM_001322308.3:c.1650+982dup NM_001322308.3:c.1650+981_1650+982dup NM_001322308.3:c.1650+980_1650+982dup NM_001322308.3:c.1650+979_1650+982dup NM_001322308.3:c.1650+978_1650+982dup NM_001322308.3:c.1650+977_1650+982dup NM_001322308.3:c.1650+976_1650+982dup NM_001322308.3:c.1650+975_1650+982dup NM_001322308.3:c.1650+974_1650+982dup NM_001322308.3:c.1650+973_1650+982dup NM_001322308.3:c.1650+972_1650+982dup NM_001322308.3:c.1650+970_1650+982dup NM_001322308.3:c.1650+964_1650+982dup NM_001322308.3:c.1650+962_1650+982dup
PHACTR1 transcript variant 4 NM_001322309.3:c.1650+956= NM_001322309.3:c.1650+970_1650+982del NM_001322309.3:c.1650+971_1650+982del NM_001322309.3:c.1650+972_1650+982del NM_001322309.3:c.1650+973_1650+982del NM_001322309.3:c.1650+974_1650+982del NM_001322309.3:c.1650+975_1650+982del NM_001322309.3:c.1650+976_1650+982del NM_001322309.3:c.1650+977_1650+982del NM_001322309.3:c.1650+978_1650+982del NM_001322309.3:c.1650+979_1650+982del NM_001322309.3:c.1650+980_1650+982del NM_001322309.3:c.1650+981_1650+982del NM_001322309.3:c.1650+982del NM_001322309.3:c.1650+982dup NM_001322309.3:c.1650+981_1650+982dup NM_001322309.3:c.1650+980_1650+982dup NM_001322309.3:c.1650+979_1650+982dup NM_001322309.3:c.1650+978_1650+982dup NM_001322309.3:c.1650+977_1650+982dup NM_001322309.3:c.1650+976_1650+982dup NM_001322309.3:c.1650+975_1650+982dup NM_001322309.3:c.1650+974_1650+982dup NM_001322309.3:c.1650+973_1650+982dup NM_001322309.3:c.1650+972_1650+982dup NM_001322309.3:c.1650+970_1650+982dup NM_001322309.3:c.1650+964_1650+982dup NM_001322309.3:c.1650+962_1650+982dup
PHACTR1 transcript variant 5 NM_001322310.2:c.1857+956= NM_001322310.2:c.1857+970_1857+982del NM_001322310.2:c.1857+971_1857+982del NM_001322310.2:c.1857+972_1857+982del NM_001322310.2:c.1857+973_1857+982del NM_001322310.2:c.1857+974_1857+982del NM_001322310.2:c.1857+975_1857+982del NM_001322310.2:c.1857+976_1857+982del NM_001322310.2:c.1857+977_1857+982del NM_001322310.2:c.1857+978_1857+982del NM_001322310.2:c.1857+979_1857+982del NM_001322310.2:c.1857+980_1857+982del NM_001322310.2:c.1857+981_1857+982del NM_001322310.2:c.1857+982del NM_001322310.2:c.1857+982dup NM_001322310.2:c.1857+981_1857+982dup NM_001322310.2:c.1857+980_1857+982dup NM_001322310.2:c.1857+979_1857+982dup NM_001322310.2:c.1857+978_1857+982dup NM_001322310.2:c.1857+977_1857+982dup NM_001322310.2:c.1857+976_1857+982dup NM_001322310.2:c.1857+975_1857+982dup NM_001322310.2:c.1857+974_1857+982dup NM_001322310.2:c.1857+973_1857+982dup NM_001322310.2:c.1857+972_1857+982dup NM_001322310.2:c.1857+970_1857+982dup NM_001322310.2:c.1857+964_1857+982dup NM_001322310.2:c.1857+962_1857+982dup
PHACTR1 transcript variant 6 NM_001322311.2:c.1374+956= NM_001322311.2:c.1374+970_1374+982del NM_001322311.2:c.1374+971_1374+982del NM_001322311.2:c.1374+972_1374+982del NM_001322311.2:c.1374+973_1374+982del NM_001322311.2:c.1374+974_1374+982del NM_001322311.2:c.1374+975_1374+982del NM_001322311.2:c.1374+976_1374+982del NM_001322311.2:c.1374+977_1374+982del NM_001322311.2:c.1374+978_1374+982del NM_001322311.2:c.1374+979_1374+982del NM_001322311.2:c.1374+980_1374+982del NM_001322311.2:c.1374+981_1374+982del NM_001322311.2:c.1374+982del NM_001322311.2:c.1374+982dup NM_001322311.2:c.1374+981_1374+982dup NM_001322311.2:c.1374+980_1374+982dup NM_001322311.2:c.1374+979_1374+982dup NM_001322311.2:c.1374+978_1374+982dup NM_001322311.2:c.1374+977_1374+982dup NM_001322311.2:c.1374+976_1374+982dup NM_001322311.2:c.1374+975_1374+982dup NM_001322311.2:c.1374+974_1374+982dup NM_001322311.2:c.1374+973_1374+982dup NM_001322311.2:c.1374+972_1374+982dup NM_001322311.2:c.1374+970_1374+982dup NM_001322311.2:c.1374+964_1374+982dup NM_001322311.2:c.1374+962_1374+982dup
PHACTR1 transcript variant 7 NM_001322312.3:c.1374+956= NM_001322312.3:c.1374+970_1374+982del NM_001322312.3:c.1374+971_1374+982del NM_001322312.3:c.1374+972_1374+982del NM_001322312.3:c.1374+973_1374+982del NM_001322312.3:c.1374+974_1374+982del NM_001322312.3:c.1374+975_1374+982del NM_001322312.3:c.1374+976_1374+982del NM_001322312.3:c.1374+977_1374+982del NM_001322312.3:c.1374+978_1374+982del NM_001322312.3:c.1374+979_1374+982del NM_001322312.3:c.1374+980_1374+982del NM_001322312.3:c.1374+981_1374+982del NM_001322312.3:c.1374+982del NM_001322312.3:c.1374+982dup NM_001322312.3:c.1374+981_1374+982dup NM_001322312.3:c.1374+980_1374+982dup NM_001322312.3:c.1374+979_1374+982dup NM_001322312.3:c.1374+978_1374+982dup NM_001322312.3:c.1374+977_1374+982dup NM_001322312.3:c.1374+976_1374+982dup NM_001322312.3:c.1374+975_1374+982dup NM_001322312.3:c.1374+974_1374+982dup NM_001322312.3:c.1374+973_1374+982dup NM_001322312.3:c.1374+972_1374+982dup NM_001322312.3:c.1374+970_1374+982dup NM_001322312.3:c.1374+964_1374+982dup NM_001322312.3:c.1374+962_1374+982dup
PHACTR1 transcript variant 8 NM_001322313.2:c.1581+956= NM_001322313.2:c.1581+970_1581+982del NM_001322313.2:c.1581+971_1581+982del NM_001322313.2:c.1581+972_1581+982del NM_001322313.2:c.1581+973_1581+982del NM_001322313.2:c.1581+974_1581+982del NM_001322313.2:c.1581+975_1581+982del NM_001322313.2:c.1581+976_1581+982del NM_001322313.2:c.1581+977_1581+982del NM_001322313.2:c.1581+978_1581+982del NM_001322313.2:c.1581+979_1581+982del NM_001322313.2:c.1581+980_1581+982del NM_001322313.2:c.1581+981_1581+982del NM_001322313.2:c.1581+982del NM_001322313.2:c.1581+982dup NM_001322313.2:c.1581+981_1581+982dup NM_001322313.2:c.1581+980_1581+982dup NM_001322313.2:c.1581+979_1581+982dup NM_001322313.2:c.1581+978_1581+982dup NM_001322313.2:c.1581+977_1581+982dup NM_001322313.2:c.1581+976_1581+982dup NM_001322313.2:c.1581+975_1581+982dup NM_001322313.2:c.1581+974_1581+982dup NM_001322313.2:c.1581+973_1581+982dup NM_001322313.2:c.1581+972_1581+982dup NM_001322313.2:c.1581+970_1581+982dup NM_001322313.2:c.1581+964_1581+982dup NM_001322313.2:c.1581+962_1581+982dup
PHACTR1 transcript variant 9 NM_001322314.4:c.1860+956= NM_001322314.4:c.1860+970_1860+982del NM_001322314.4:c.1860+971_1860+982del NM_001322314.4:c.1860+972_1860+982del NM_001322314.4:c.1860+973_1860+982del NM_001322314.4:c.1860+974_1860+982del NM_001322314.4:c.1860+975_1860+982del NM_001322314.4:c.1860+976_1860+982del NM_001322314.4:c.1860+977_1860+982del NM_001322314.4:c.1860+978_1860+982del NM_001322314.4:c.1860+979_1860+982del NM_001322314.4:c.1860+980_1860+982del NM_001322314.4:c.1860+981_1860+982del NM_001322314.4:c.1860+982del NM_001322314.4:c.1860+982dup NM_001322314.4:c.1860+981_1860+982dup NM_001322314.4:c.1860+980_1860+982dup NM_001322314.4:c.1860+979_1860+982dup NM_001322314.4:c.1860+978_1860+982dup NM_001322314.4:c.1860+977_1860+982dup NM_001322314.4:c.1860+976_1860+982dup NM_001322314.4:c.1860+975_1860+982dup NM_001322314.4:c.1860+974_1860+982dup NM_001322314.4:c.1860+973_1860+982dup NM_001322314.4:c.1860+972_1860+982dup NM_001322314.4:c.1860+970_1860+982dup NM_001322314.4:c.1860+964_1860+982dup NM_001322314.4:c.1860+962_1860+982dup
PHACTR1 transcript variant 10 NM_001374581.2:c.1650+956= NM_001374581.2:c.1650+970_1650+982del NM_001374581.2:c.1650+971_1650+982del NM_001374581.2:c.1650+972_1650+982del NM_001374581.2:c.1650+973_1650+982del NM_001374581.2:c.1650+974_1650+982del NM_001374581.2:c.1650+975_1650+982del NM_001374581.2:c.1650+976_1650+982del NM_001374581.2:c.1650+977_1650+982del NM_001374581.2:c.1650+978_1650+982del NM_001374581.2:c.1650+979_1650+982del NM_001374581.2:c.1650+980_1650+982del NM_001374581.2:c.1650+981_1650+982del NM_001374581.2:c.1650+982del NM_001374581.2:c.1650+982dup NM_001374581.2:c.1650+981_1650+982dup NM_001374581.2:c.1650+980_1650+982dup NM_001374581.2:c.1650+979_1650+982dup NM_001374581.2:c.1650+978_1650+982dup NM_001374581.2:c.1650+977_1650+982dup NM_001374581.2:c.1650+976_1650+982dup NM_001374581.2:c.1650+975_1650+982dup NM_001374581.2:c.1650+974_1650+982dup NM_001374581.2:c.1650+973_1650+982dup NM_001374581.2:c.1650+972_1650+982dup NM_001374581.2:c.1650+970_1650+982dup NM_001374581.2:c.1650+964_1650+982dup NM_001374581.2:c.1650+962_1650+982dup
PHACTR1 transcript variant 12 NM_001374583.2:c.1374+956= NM_001374583.2:c.1374+970_1374+982del NM_001374583.2:c.1374+971_1374+982del NM_001374583.2:c.1374+972_1374+982del NM_001374583.2:c.1374+973_1374+982del NM_001374583.2:c.1374+974_1374+982del NM_001374583.2:c.1374+975_1374+982del NM_001374583.2:c.1374+976_1374+982del NM_001374583.2:c.1374+977_1374+982del NM_001374583.2:c.1374+978_1374+982del NM_001374583.2:c.1374+979_1374+982del NM_001374583.2:c.1374+980_1374+982del NM_001374583.2:c.1374+981_1374+982del NM_001374583.2:c.1374+982del NM_001374583.2:c.1374+982dup NM_001374583.2:c.1374+981_1374+982dup NM_001374583.2:c.1374+980_1374+982dup NM_001374583.2:c.1374+979_1374+982dup NM_001374583.2:c.1374+978_1374+982dup NM_001374583.2:c.1374+977_1374+982dup NM_001374583.2:c.1374+976_1374+982dup NM_001374583.2:c.1374+975_1374+982dup NM_001374583.2:c.1374+974_1374+982dup NM_001374583.2:c.1374+973_1374+982dup NM_001374583.2:c.1374+972_1374+982dup NM_001374583.2:c.1374+970_1374+982dup NM_001374583.2:c.1374+964_1374+982dup NM_001374583.2:c.1374+962_1374+982dup
PHACTR1 transcript variant 1 NM_030948.2:c.1650+956= NM_030948.2:c.1650+970_1650+982del NM_030948.2:c.1650+971_1650+982del NM_030948.2:c.1650+972_1650+982del NM_030948.2:c.1650+973_1650+982del NM_030948.2:c.1650+974_1650+982del NM_030948.2:c.1650+975_1650+982del NM_030948.2:c.1650+976_1650+982del NM_030948.2:c.1650+977_1650+982del NM_030948.2:c.1650+978_1650+982del NM_030948.2:c.1650+979_1650+982del NM_030948.2:c.1650+980_1650+982del NM_030948.2:c.1650+981_1650+982del NM_030948.2:c.1650+982del NM_030948.2:c.1650+982dup NM_030948.2:c.1650+981_1650+982dup NM_030948.2:c.1650+980_1650+982dup NM_030948.2:c.1650+979_1650+982dup NM_030948.2:c.1650+978_1650+982dup NM_030948.2:c.1650+977_1650+982dup NM_030948.2:c.1650+976_1650+982dup NM_030948.2:c.1650+975_1650+982dup NM_030948.2:c.1650+974_1650+982dup NM_030948.2:c.1650+973_1650+982dup NM_030948.2:c.1650+972_1650+982dup NM_030948.2:c.1650+970_1650+982dup NM_030948.2:c.1650+964_1650+982dup NM_030948.2:c.1650+962_1650+982dup
PHACTR1 transcript variant 1 NM_030948.6:c.1650+956= NM_030948.6:c.1650+970_1650+982del NM_030948.6:c.1650+971_1650+982del NM_030948.6:c.1650+972_1650+982del NM_030948.6:c.1650+973_1650+982del NM_030948.6:c.1650+974_1650+982del NM_030948.6:c.1650+975_1650+982del NM_030948.6:c.1650+976_1650+982del NM_030948.6:c.1650+977_1650+982del NM_030948.6:c.1650+978_1650+982del NM_030948.6:c.1650+979_1650+982del NM_030948.6:c.1650+980_1650+982del NM_030948.6:c.1650+981_1650+982del NM_030948.6:c.1650+982del NM_030948.6:c.1650+982dup NM_030948.6:c.1650+981_1650+982dup NM_030948.6:c.1650+980_1650+982dup NM_030948.6:c.1650+979_1650+982dup NM_030948.6:c.1650+978_1650+982dup NM_030948.6:c.1650+977_1650+982dup NM_030948.6:c.1650+976_1650+982dup NM_030948.6:c.1650+975_1650+982dup NM_030948.6:c.1650+974_1650+982dup NM_030948.6:c.1650+973_1650+982dup NM_030948.6:c.1650+972_1650+982dup NM_030948.6:c.1650+970_1650+982dup NM_030948.6:c.1650+964_1650+982dup NM_030948.6:c.1650+962_1650+982dup
LOC100130357 transcript variant X1 XM_005248776.1:c.141-2965= XM_005248776.1:c.141-2977_141-2965del XM_005248776.1:c.141-2976_141-2965del XM_005248776.1:c.141-2975_141-2965del XM_005248776.1:c.141-2974_141-2965del XM_005248776.1:c.141-2973_141-2965del XM_005248776.1:c.141-2972_141-2965del XM_005248776.1:c.141-2971_141-2965del XM_005248776.1:c.141-2970_141-2965del XM_005248776.1:c.141-2969_141-2965del XM_005248776.1:c.141-2968_141-2965del XM_005248776.1:c.141-2967_141-2965del XM_005248776.1:c.141-2966_141-2965del XM_005248776.1:c.141-2965del XM_005248776.1:c.141-2965dup XM_005248776.1:c.141-2966_141-2965dup XM_005248776.1:c.141-2967_141-2965dup XM_005248776.1:c.141-2968_141-2965dup XM_005248776.1:c.141-2969_141-2965dup XM_005248776.1:c.141-2970_141-2965dup XM_005248776.1:c.141-2971_141-2965dup XM_005248776.1:c.141-2972_141-2965dup XM_005248776.1:c.141-2973_141-2965dup XM_005248776.1:c.141-2974_141-2965dup XM_005248776.1:c.141-2975_141-2965dup XM_005248776.1:c.141-2977_141-2965dup XM_005248776.1:c.141-2983_141-2965dup XM_005248776.1:c.141-2985_141-2965dup
PHACTR1 transcript variant X2 XM_005248933.1:c.1857+956= XM_005248933.1:c.1857+970_1857+982del XM_005248933.1:c.1857+971_1857+982del XM_005248933.1:c.1857+972_1857+982del XM_005248933.1:c.1857+973_1857+982del XM_005248933.1:c.1857+974_1857+982del XM_005248933.1:c.1857+975_1857+982del XM_005248933.1:c.1857+976_1857+982del XM_005248933.1:c.1857+977_1857+982del XM_005248933.1:c.1857+978_1857+982del XM_005248933.1:c.1857+979_1857+982del XM_005248933.1:c.1857+980_1857+982del XM_005248933.1:c.1857+981_1857+982del XM_005248933.1:c.1857+982del XM_005248933.1:c.1857+982dup XM_005248933.1:c.1857+981_1857+982dup XM_005248933.1:c.1857+980_1857+982dup XM_005248933.1:c.1857+979_1857+982dup XM_005248933.1:c.1857+978_1857+982dup XM_005248933.1:c.1857+977_1857+982dup XM_005248933.1:c.1857+976_1857+982dup XM_005248933.1:c.1857+975_1857+982dup XM_005248933.1:c.1857+974_1857+982dup XM_005248933.1:c.1857+973_1857+982dup XM_005248933.1:c.1857+972_1857+982dup XM_005248933.1:c.1857+970_1857+982dup XM_005248933.1:c.1857+964_1857+982dup XM_005248933.1:c.1857+962_1857+982dup
PHACTR1 transcript variant X1 XM_005248934.1:c.1857+956= XM_005248934.1:c.1857+970_1857+982del XM_005248934.1:c.1857+971_1857+982del XM_005248934.1:c.1857+972_1857+982del XM_005248934.1:c.1857+973_1857+982del XM_005248934.1:c.1857+974_1857+982del XM_005248934.1:c.1857+975_1857+982del XM_005248934.1:c.1857+976_1857+982del XM_005248934.1:c.1857+977_1857+982del XM_005248934.1:c.1857+978_1857+982del XM_005248934.1:c.1857+979_1857+982del XM_005248934.1:c.1857+980_1857+982del XM_005248934.1:c.1857+981_1857+982del XM_005248934.1:c.1857+982del XM_005248934.1:c.1857+982dup XM_005248934.1:c.1857+981_1857+982dup XM_005248934.1:c.1857+980_1857+982dup XM_005248934.1:c.1857+979_1857+982dup XM_005248934.1:c.1857+978_1857+982dup XM_005248934.1:c.1857+977_1857+982dup XM_005248934.1:c.1857+976_1857+982dup XM_005248934.1:c.1857+975_1857+982dup XM_005248934.1:c.1857+974_1857+982dup XM_005248934.1:c.1857+973_1857+982dup XM_005248934.1:c.1857+972_1857+982dup XM_005248934.1:c.1857+970_1857+982dup XM_005248934.1:c.1857+964_1857+982dup XM_005248934.1:c.1857+962_1857+982dup
PHACTR1 transcript variant X1 XM_005248934.4:c.1857+956= XM_005248934.4:c.1857+970_1857+982del XM_005248934.4:c.1857+971_1857+982del XM_005248934.4:c.1857+972_1857+982del XM_005248934.4:c.1857+973_1857+982del XM_005248934.4:c.1857+974_1857+982del XM_005248934.4:c.1857+975_1857+982del XM_005248934.4:c.1857+976_1857+982del XM_005248934.4:c.1857+977_1857+982del XM_005248934.4:c.1857+978_1857+982del XM_005248934.4:c.1857+979_1857+982del XM_005248934.4:c.1857+980_1857+982del XM_005248934.4:c.1857+981_1857+982del XM_005248934.4:c.1857+982del XM_005248934.4:c.1857+982dup XM_005248934.4:c.1857+981_1857+982dup XM_005248934.4:c.1857+980_1857+982dup XM_005248934.4:c.1857+979_1857+982dup XM_005248934.4:c.1857+978_1857+982dup XM_005248934.4:c.1857+977_1857+982dup XM_005248934.4:c.1857+976_1857+982dup XM_005248934.4:c.1857+975_1857+982dup XM_005248934.4:c.1857+974_1857+982dup XM_005248934.4:c.1857+973_1857+982dup XM_005248934.4:c.1857+972_1857+982dup XM_005248934.4:c.1857+970_1857+982dup XM_005248934.4:c.1857+964_1857+982dup XM_005248934.4:c.1857+962_1857+982dup
PHACTR1 transcript variant X3 XM_005248935.1:c.1857+956= XM_005248935.1:c.1857+970_1857+982del XM_005248935.1:c.1857+971_1857+982del XM_005248935.1:c.1857+972_1857+982del XM_005248935.1:c.1857+973_1857+982del XM_005248935.1:c.1857+974_1857+982del XM_005248935.1:c.1857+975_1857+982del XM_005248935.1:c.1857+976_1857+982del XM_005248935.1:c.1857+977_1857+982del XM_005248935.1:c.1857+978_1857+982del XM_005248935.1:c.1857+979_1857+982del XM_005248935.1:c.1857+980_1857+982del XM_005248935.1:c.1857+981_1857+982del XM_005248935.1:c.1857+982del XM_005248935.1:c.1857+982dup XM_005248935.1:c.1857+981_1857+982dup XM_005248935.1:c.1857+980_1857+982dup XM_005248935.1:c.1857+979_1857+982dup XM_005248935.1:c.1857+978_1857+982dup XM_005248935.1:c.1857+977_1857+982dup XM_005248935.1:c.1857+976_1857+982dup XM_005248935.1:c.1857+975_1857+982dup XM_005248935.1:c.1857+974_1857+982dup XM_005248935.1:c.1857+973_1857+982dup XM_005248935.1:c.1857+972_1857+982dup XM_005248935.1:c.1857+970_1857+982dup XM_005248935.1:c.1857+964_1857+982dup XM_005248935.1:c.1857+962_1857+982dup
PHACTR1 transcript variant X4 XM_005248936.1:c.1581+956= XM_005248936.1:c.1581+970_1581+982del XM_005248936.1:c.1581+971_1581+982del XM_005248936.1:c.1581+972_1581+982del XM_005248936.1:c.1581+973_1581+982del XM_005248936.1:c.1581+974_1581+982del XM_005248936.1:c.1581+975_1581+982del XM_005248936.1:c.1581+976_1581+982del XM_005248936.1:c.1581+977_1581+982del XM_005248936.1:c.1581+978_1581+982del XM_005248936.1:c.1581+979_1581+982del XM_005248936.1:c.1581+980_1581+982del XM_005248936.1:c.1581+981_1581+982del XM_005248936.1:c.1581+982del XM_005248936.1:c.1581+982dup XM_005248936.1:c.1581+981_1581+982dup XM_005248936.1:c.1581+980_1581+982dup XM_005248936.1:c.1581+979_1581+982dup XM_005248936.1:c.1581+978_1581+982dup XM_005248936.1:c.1581+977_1581+982dup XM_005248936.1:c.1581+976_1581+982dup XM_005248936.1:c.1581+975_1581+982dup XM_005248936.1:c.1581+974_1581+982dup XM_005248936.1:c.1581+973_1581+982dup XM_005248936.1:c.1581+972_1581+982dup XM_005248936.1:c.1581+970_1581+982dup XM_005248936.1:c.1581+964_1581+982dup XM_005248936.1:c.1581+962_1581+982dup
PHACTR1 transcript variant X5 XM_005248937.1:c.1374+956= XM_005248937.1:c.1374+970_1374+982del XM_005248937.1:c.1374+971_1374+982del XM_005248937.1:c.1374+972_1374+982del XM_005248937.1:c.1374+973_1374+982del XM_005248937.1:c.1374+974_1374+982del XM_005248937.1:c.1374+975_1374+982del XM_005248937.1:c.1374+976_1374+982del XM_005248937.1:c.1374+977_1374+982del XM_005248937.1:c.1374+978_1374+982del XM_005248937.1:c.1374+979_1374+982del XM_005248937.1:c.1374+980_1374+982del XM_005248937.1:c.1374+981_1374+982del XM_005248937.1:c.1374+982del XM_005248937.1:c.1374+982dup XM_005248937.1:c.1374+981_1374+982dup XM_005248937.1:c.1374+980_1374+982dup XM_005248937.1:c.1374+979_1374+982dup XM_005248937.1:c.1374+978_1374+982dup XM_005248937.1:c.1374+977_1374+982dup XM_005248937.1:c.1374+976_1374+982dup XM_005248937.1:c.1374+975_1374+982dup XM_005248937.1:c.1374+974_1374+982dup XM_005248937.1:c.1374+973_1374+982dup XM_005248937.1:c.1374+972_1374+982dup XM_005248937.1:c.1374+970_1374+982dup XM_005248937.1:c.1374+964_1374+982dup XM_005248937.1:c.1374+962_1374+982dup
PHACTR1 transcript variant X5 XM_017010458.3:c.1653+956= XM_017010458.3:c.1653+970_1653+982del XM_017010458.3:c.1653+971_1653+982del XM_017010458.3:c.1653+972_1653+982del XM_017010458.3:c.1653+973_1653+982del XM_017010458.3:c.1653+974_1653+982del XM_017010458.3:c.1653+975_1653+982del XM_017010458.3:c.1653+976_1653+982del XM_017010458.3:c.1653+977_1653+982del XM_017010458.3:c.1653+978_1653+982del XM_017010458.3:c.1653+979_1653+982del XM_017010458.3:c.1653+980_1653+982del XM_017010458.3:c.1653+981_1653+982del XM_017010458.3:c.1653+982del XM_017010458.3:c.1653+982dup XM_017010458.3:c.1653+981_1653+982dup XM_017010458.3:c.1653+980_1653+982dup XM_017010458.3:c.1653+979_1653+982dup XM_017010458.3:c.1653+978_1653+982dup XM_017010458.3:c.1653+977_1653+982dup XM_017010458.3:c.1653+976_1653+982dup XM_017010458.3:c.1653+975_1653+982dup XM_017010458.3:c.1653+974_1653+982dup XM_017010458.3:c.1653+973_1653+982dup XM_017010458.3:c.1653+972_1653+982dup XM_017010458.3:c.1653+970_1653+982dup XM_017010458.3:c.1653+964_1653+982dup XM_017010458.3:c.1653+962_1653+982dup
PHACTR1 transcript variant X6 XM_017010459.3:c.1650+956= XM_017010459.3:c.1650+970_1650+982del XM_017010459.3:c.1650+971_1650+982del XM_017010459.3:c.1650+972_1650+982del XM_017010459.3:c.1650+973_1650+982del XM_017010459.3:c.1650+974_1650+982del XM_017010459.3:c.1650+975_1650+982del XM_017010459.3:c.1650+976_1650+982del XM_017010459.3:c.1650+977_1650+982del XM_017010459.3:c.1650+978_1650+982del XM_017010459.3:c.1650+979_1650+982del XM_017010459.3:c.1650+980_1650+982del XM_017010459.3:c.1650+981_1650+982del XM_017010459.3:c.1650+982del XM_017010459.3:c.1650+982dup XM_017010459.3:c.1650+981_1650+982dup XM_017010459.3:c.1650+980_1650+982dup XM_017010459.3:c.1650+979_1650+982dup XM_017010459.3:c.1650+978_1650+982dup XM_017010459.3:c.1650+977_1650+982dup XM_017010459.3:c.1650+976_1650+982dup XM_017010459.3:c.1650+975_1650+982dup XM_017010459.3:c.1650+974_1650+982dup XM_017010459.3:c.1650+973_1650+982dup XM_017010459.3:c.1650+972_1650+982dup XM_017010459.3:c.1650+970_1650+982dup XM_017010459.3:c.1650+964_1650+982dup XM_017010459.3:c.1650+962_1650+982dup
PHACTR1 transcript variant X7 XM_017010464.3:c.1653+956= XM_017010464.3:c.1653+970_1653+982del XM_017010464.3:c.1653+971_1653+982del XM_017010464.3:c.1653+972_1653+982del XM_017010464.3:c.1653+973_1653+982del XM_017010464.3:c.1653+974_1653+982del XM_017010464.3:c.1653+975_1653+982del XM_017010464.3:c.1653+976_1653+982del XM_017010464.3:c.1653+977_1653+982del XM_017010464.3:c.1653+978_1653+982del XM_017010464.3:c.1653+979_1653+982del XM_017010464.3:c.1653+980_1653+982del XM_017010464.3:c.1653+981_1653+982del XM_017010464.3:c.1653+982del XM_017010464.3:c.1653+982dup XM_017010464.3:c.1653+981_1653+982dup XM_017010464.3:c.1653+980_1653+982dup XM_017010464.3:c.1653+979_1653+982dup XM_017010464.3:c.1653+978_1653+982dup XM_017010464.3:c.1653+977_1653+982dup XM_017010464.3:c.1653+976_1653+982dup XM_017010464.3:c.1653+975_1653+982dup XM_017010464.3:c.1653+974_1653+982dup XM_017010464.3:c.1653+973_1653+982dup XM_017010464.3:c.1653+972_1653+982dup XM_017010464.3:c.1653+970_1653+982dup XM_017010464.3:c.1653+964_1653+982dup XM_017010464.3:c.1653+962_1653+982dup
PHACTR1 transcript variant X2 XM_047418372.1:c.1857+956= XM_047418372.1:c.1857+970_1857+982del XM_047418372.1:c.1857+971_1857+982del XM_047418372.1:c.1857+972_1857+982del XM_047418372.1:c.1857+973_1857+982del XM_047418372.1:c.1857+974_1857+982del XM_047418372.1:c.1857+975_1857+982del XM_047418372.1:c.1857+976_1857+982del XM_047418372.1:c.1857+977_1857+982del XM_047418372.1:c.1857+978_1857+982del XM_047418372.1:c.1857+979_1857+982del XM_047418372.1:c.1857+980_1857+982del XM_047418372.1:c.1857+981_1857+982del XM_047418372.1:c.1857+982del XM_047418372.1:c.1857+982dup XM_047418372.1:c.1857+981_1857+982dup XM_047418372.1:c.1857+980_1857+982dup XM_047418372.1:c.1857+979_1857+982dup XM_047418372.1:c.1857+978_1857+982dup XM_047418372.1:c.1857+977_1857+982dup XM_047418372.1:c.1857+976_1857+982dup XM_047418372.1:c.1857+975_1857+982dup XM_047418372.1:c.1857+974_1857+982dup XM_047418372.1:c.1857+973_1857+982dup XM_047418372.1:c.1857+972_1857+982dup XM_047418372.1:c.1857+970_1857+982dup XM_047418372.1:c.1857+964_1857+982dup XM_047418372.1:c.1857+962_1857+982dup
PHACTR1 transcript variant X3 XM_047418373.1:c.1857+956= XM_047418373.1:c.1857+970_1857+982del XM_047418373.1:c.1857+971_1857+982del XM_047418373.1:c.1857+972_1857+982del XM_047418373.1:c.1857+973_1857+982del XM_047418373.1:c.1857+974_1857+982del XM_047418373.1:c.1857+975_1857+982del XM_047418373.1:c.1857+976_1857+982del XM_047418373.1:c.1857+977_1857+982del XM_047418373.1:c.1857+978_1857+982del XM_047418373.1:c.1857+979_1857+982del XM_047418373.1:c.1857+980_1857+982del XM_047418373.1:c.1857+981_1857+982del XM_047418373.1:c.1857+982del XM_047418373.1:c.1857+982dup XM_047418373.1:c.1857+981_1857+982dup XM_047418373.1:c.1857+980_1857+982dup XM_047418373.1:c.1857+979_1857+982dup XM_047418373.1:c.1857+978_1857+982dup XM_047418373.1:c.1857+977_1857+982dup XM_047418373.1:c.1857+976_1857+982dup XM_047418373.1:c.1857+975_1857+982dup XM_047418373.1:c.1857+974_1857+982dup XM_047418373.1:c.1857+973_1857+982dup XM_047418373.1:c.1857+972_1857+982dup XM_047418373.1:c.1857+970_1857+982dup XM_047418373.1:c.1857+964_1857+982dup XM_047418373.1:c.1857+962_1857+982dup
PHACTR1 transcript variant X4 XM_047418374.1:c.1857+956= XM_047418374.1:c.1857+970_1857+982del XM_047418374.1:c.1857+971_1857+982del XM_047418374.1:c.1857+972_1857+982del XM_047418374.1:c.1857+973_1857+982del XM_047418374.1:c.1857+974_1857+982del XM_047418374.1:c.1857+975_1857+982del XM_047418374.1:c.1857+976_1857+982del XM_047418374.1:c.1857+977_1857+982del XM_047418374.1:c.1857+978_1857+982del XM_047418374.1:c.1857+979_1857+982del XM_047418374.1:c.1857+980_1857+982del XM_047418374.1:c.1857+981_1857+982del XM_047418374.1:c.1857+982del XM_047418374.1:c.1857+982dup XM_047418374.1:c.1857+981_1857+982dup XM_047418374.1:c.1857+980_1857+982dup XM_047418374.1:c.1857+979_1857+982dup XM_047418374.1:c.1857+978_1857+982dup XM_047418374.1:c.1857+977_1857+982dup XM_047418374.1:c.1857+976_1857+982dup XM_047418374.1:c.1857+975_1857+982dup XM_047418374.1:c.1857+974_1857+982dup XM_047418374.1:c.1857+973_1857+982dup XM_047418374.1:c.1857+972_1857+982dup XM_047418374.1:c.1857+970_1857+982dup XM_047418374.1:c.1857+964_1857+982dup XM_047418374.1:c.1857+962_1857+982dup
PHACTR1 transcript variant X8 XM_047418375.1:c.1581+956= XM_047418375.1:c.1581+970_1581+982del XM_047418375.1:c.1581+971_1581+982del XM_047418375.1:c.1581+972_1581+982del XM_047418375.1:c.1581+973_1581+982del XM_047418375.1:c.1581+974_1581+982del XM_047418375.1:c.1581+975_1581+982del XM_047418375.1:c.1581+976_1581+982del XM_047418375.1:c.1581+977_1581+982del XM_047418375.1:c.1581+978_1581+982del XM_047418375.1:c.1581+979_1581+982del XM_047418375.1:c.1581+980_1581+982del XM_047418375.1:c.1581+981_1581+982del XM_047418375.1:c.1581+982del XM_047418375.1:c.1581+982dup XM_047418375.1:c.1581+981_1581+982dup XM_047418375.1:c.1581+980_1581+982dup XM_047418375.1:c.1581+979_1581+982dup XM_047418375.1:c.1581+978_1581+982dup XM_047418375.1:c.1581+977_1581+982dup XM_047418375.1:c.1581+976_1581+982dup XM_047418375.1:c.1581+975_1581+982dup XM_047418375.1:c.1581+974_1581+982dup XM_047418375.1:c.1581+973_1581+982dup XM_047418375.1:c.1581+972_1581+982dup XM_047418375.1:c.1581+970_1581+982dup XM_047418375.1:c.1581+964_1581+982dup XM_047418375.1:c.1581+962_1581+982dup
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

42 SubSNP, 30 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss81627460 Dec 15, 2007 (129)
2 HUMANGENOME_JCVI ss98464595 Feb 04, 2009 (130)
3 1000GENOMES ss1375143654 Aug 21, 2014 (142)
4 SWEGEN ss2998540663 Nov 08, 2017 (151)
5 EVA_DECODE ss3716614620 Jul 13, 2019 (153)
6 EVA_DECODE ss3716614621 Jul 13, 2019 (153)
7 EVA_DECODE ss3716614622 Jul 13, 2019 (153)
8 EVA_DECODE ss3716614623 Jul 13, 2019 (153)
9 EVA_DECODE ss3716614624 Jul 13, 2019 (153)
10 EVA_DECODE ss3716614625 Jul 13, 2019 (153)
11 PACBIO ss3785377563 Jul 13, 2019 (153)
12 PACBIO ss3790742500 Jul 13, 2019 (153)
13 PACBIO ss3795619776 Jul 13, 2019 (153)
14 KHV_HUMAN_GENOMES ss3807794998 Jul 13, 2019 (153)
15 GNOMAD ss4137150741 Apr 26, 2021 (155)
16 GNOMAD ss4137150742 Apr 26, 2021 (155)
17 GNOMAD ss4137150743 Apr 26, 2021 (155)
18 GNOMAD ss4137150744 Apr 26, 2021 (155)
19 GNOMAD ss4137150745 Apr 26, 2021 (155)
20 GNOMAD ss4137150746 Apr 26, 2021 (155)
21 GNOMAD ss4137150747 Apr 26, 2021 (155)
22 GNOMAD ss4137150748 Apr 26, 2021 (155)
23 GNOMAD ss4137150749 Apr 26, 2021 (155)
24 GNOMAD ss4137150750 Apr 26, 2021 (155)
25 GNOMAD ss4137150751 Apr 26, 2021 (155)
26 GNOMAD ss4137150752 Apr 26, 2021 (155)
27 GNOMAD ss4137150753 Apr 26, 2021 (155)
28 GNOMAD ss4137150754 Apr 26, 2021 (155)
29 GNOMAD ss4137150755 Apr 26, 2021 (155)
30 GNOMAD ss4137150756 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5176223522 Apr 26, 2021 (155)
32 TOMMO_GENOMICS ss5176223523 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5176223524 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5176223525 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5176223526 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5176223527 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5713906883 Oct 13, 2022 (156)
38 TOMMO_GENOMICS ss5713906884 Oct 13, 2022 (156)
39 TOMMO_GENOMICS ss5713906885 Oct 13, 2022 (156)
40 TOMMO_GENOMICS ss5713906886 Oct 13, 2022 (156)
41 TOMMO_GENOMICS ss5713906887 Oct 13, 2022 (156)
42 TOMMO_GENOMICS ss5713906888 Oct 13, 2022 (156)
43 1000Genomes NC_000006.11 - 13284750 Oct 12, 2018 (152)
44 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
45 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
46 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
56 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 217499476 (NC_000006.12:13284517::A 103/37720)
Row 217499477 (NC_000006.12:13284517::AA 533/37712)
Row 217499478 (NC_000006.12:13284517::AAA 68/37716)...

- Apr 26, 2021 (155)
60 8.3KJPN

Submission ignored due to conflicting rows:
Row 34192829 (NC_000006.11:13284749:AAAAAAAAA: 110/14980)
Row 34192830 (NC_000006.11:13284749:AAAAA: 44/14980)
Row 34192831 (NC_000006.11:13284749:AAAAAAAA: 2117/14980)...

- Apr 26, 2021 (155)
61 8.3KJPN

Submission ignored due to conflicting rows:
Row 34192829 (NC_000006.11:13284749:AAAAAAAAA: 110/14980)
Row 34192830 (NC_000006.11:13284749:AAAAA: 44/14980)
Row 34192831 (NC_000006.11:13284749:AAAAAAAA: 2117/14980)...

- Apr 26, 2021 (155)
62 8.3KJPN

Submission ignored due to conflicting rows:
Row 34192829 (NC_000006.11:13284749:AAAAAAAAA: 110/14980)
Row 34192830 (NC_000006.11:13284749:AAAAA: 44/14980)
Row 34192831 (NC_000006.11:13284749:AAAAAAAA: 2117/14980)...

- Apr 26, 2021 (155)
63 8.3KJPN

Submission ignored due to conflicting rows:
Row 34192829 (NC_000006.11:13284749:AAAAAAAAA: 110/14980)
Row 34192830 (NC_000006.11:13284749:AAAAA: 44/14980)
Row 34192831 (NC_000006.11:13284749:AAAAAAAA: 2117/14980)...

- Apr 26, 2021 (155)
64 8.3KJPN

Submission ignored due to conflicting rows:
Row 34192829 (NC_000006.11:13284749:AAAAAAAAA: 110/14980)
Row 34192830 (NC_000006.11:13284749:AAAAA: 44/14980)
Row 34192831 (NC_000006.11:13284749:AAAAAAAA: 2117/14980)...

- Apr 26, 2021 (155)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 34192829 (NC_000006.11:13284749:AAAAAAAAA: 110/14980)
Row 34192830 (NC_000006.11:13284749:AAAAA: 44/14980)
Row 34192831 (NC_000006.11:13284749:AAAAAAAA: 2117/14980)...

- Apr 26, 2021 (155)
66 14KJPN

Submission ignored due to conflicting rows:
Row 47743987 (NC_000006.12:13284517:AAAAAAAA: 5023/26922)
Row 47743988 (NC_000006.12:13284517:AAAAAA: 528/26922)
Row 47743989 (NC_000006.12:13284517:AAAAAAAAA: 116/26922)...

- Oct 13, 2022 (156)
67 14KJPN

Submission ignored due to conflicting rows:
Row 47743987 (NC_000006.12:13284517:AAAAAAAA: 5023/26922)
Row 47743988 (NC_000006.12:13284517:AAAAAA: 528/26922)
Row 47743989 (NC_000006.12:13284517:AAAAAAAAA: 116/26922)...

- Oct 13, 2022 (156)
68 14KJPN

Submission ignored due to conflicting rows:
Row 47743987 (NC_000006.12:13284517:AAAAAAAA: 5023/26922)
Row 47743988 (NC_000006.12:13284517:AAAAAA: 528/26922)
Row 47743989 (NC_000006.12:13284517:AAAAAAAAA: 116/26922)...

- Oct 13, 2022 (156)
69 14KJPN

Submission ignored due to conflicting rows:
Row 47743987 (NC_000006.12:13284517:AAAAAAAA: 5023/26922)
Row 47743988 (NC_000006.12:13284517:AAAAAA: 528/26922)
Row 47743989 (NC_000006.12:13284517:AAAAAAAAA: 116/26922)...

- Oct 13, 2022 (156)
70 14KJPN

Submission ignored due to conflicting rows:
Row 47743987 (NC_000006.12:13284517:AAAAAAAA: 5023/26922)
Row 47743988 (NC_000006.12:13284517:AAAAAA: 528/26922)
Row 47743989 (NC_000006.12:13284517:AAAAAAAAA: 116/26922)...

- Oct 13, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 47743987 (NC_000006.12:13284517:AAAAAAAA: 5023/26922)
Row 47743988 (NC_000006.12:13284517:AAAAAA: 528/26922)
Row 47743989 (NC_000006.12:13284517:AAAAAAAAA: 116/26922)...

- Oct 13, 2022 (156)
72 ALFA NC_000006.12 - 13284518 Apr 26, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4137150756 NC_000006.12:13284517:AAAAAAAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4137150755 NC_000006.12:13284517:AAAAAAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5176223527 NC_000006.11:13284749:AAAAAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3716614625, ss5713906886 NC_000006.12:13284517:AAAAAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss2998540663, ss5176223522 NC_000006.11:13284749:AAAAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5713906885 NC_000006.12:13284517:AAAAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3716614624 NC_000006.12:13284518:AAAAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
30775898, ss1375143654, ss3785377563, ss3790742500, ss3795619776, ss5176223524 NC_000006.11:13284749:AAAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3807794998, ss5713906883 NC_000006.12:13284517:AAAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3716614623 NC_000006.12:13284519:AAAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss81627460 NC_000006.9:13392748:AAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5176223526 NC_000006.11:13284749:AAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5713906887 NC_000006.12:13284517:AAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3716614622 NC_000006.12:13284520:AAAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5176223525 NC_000006.11:13284749:AAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss5713906884 NC_000006.12:13284517:AAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3716614621 NC_000006.12:13284521:AAAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss5176223523 NC_000006.11:13284749:AAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5713906888 NC_000006.12:13284517:AAAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150754 NC_000006.12:13284517:AAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150741 NC_000006.12:13284517::A NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150742 NC_000006.12:13284517::AA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3716614620 NC_000006.12:13284527::AA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150743 NC_000006.12:13284517::AAA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150744 NC_000006.12:13284517::AAAA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss98464595 NT_007592.15:13224770:A:AAAAA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150745 NC_000006.12:13284517::AAAAAA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150746 NC_000006.12:13284517::AAAAAAA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150747 NC_000006.12:13284517::AAAAAAAA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
266719584 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150748 NC_000006.12:13284517::AAAAAAAAA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150749 NC_000006.12:13284517::AAAAAAAAAA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150750 NC_000006.12:13284517::AAAAAAAAAAA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150751 NC_000006.12:13284517::AAAAAAAAAAA…

NC_000006.12:13284517::AAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150752 NC_000006.12:13284517::AAAAAAAAAAA…

NC_000006.12:13284517::AAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4137150753 NC_000006.12:13284517::AAAAAAAAAAA…

NC_000006.12:13284517::AAAAAAAAAAAAAAAAAAAAA

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3490502803 NC_000006.12:13284517::AAAAA NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

ss3490502805 NC_000006.12:13284517:A: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

ss3490502806 NC_000006.12:13284517:AA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

ss3490502808 NC_000006.12:13284517:AAAA: NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

ss3490502817 NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAA:

NC_000006.12:13284517:AAAAAAAAAAAA…

NC_000006.12:13284517:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs58847683

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d