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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.

rs386368024

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:109279192-109279214 (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)15 / del(A)13 / del(A)12 / d…

del(A)15 / 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

Variation Type
Indel Insertion and Deletion
Frequency
del(A)15=0.000 (0/166, ALFA)
del(A)13=0.000 (0/166, ALFA)
del(A)12=0.000 (0/166, ALFA) (+ 18 more)
del(A)11=0.000 (0/166, ALFA)
del(A)10=0.000 (0/166, ALFA)
del(A)9=0.000 (0/166, ALFA)
del(A)8=0.000 (0/166, ALFA)
del(A)7=0.000 (0/166, ALFA)
del(A)6=0.000 (0/166, ALFA)
del(A)5=0.000 (0/166, ALFA)
del(A)4=0.000 (0/166, ALFA)
delAAA=0.000 (0/166, ALFA)
delAA=0.000 (0/166, ALFA)
delA=0.000 (0/166, ALFA)
dupA=0.000 (0/166, ALFA)
dupAA=0.000 (0/166, ALFA)
dupAAA=0.000 (0/166, ALFA)
dup(A)4=0.000 (0/166, ALFA)
dup(A)5=0.000 (0/166, ALFA)
dup(A)6=0.000 (0/166, ALFA)
dup(A)10=0.000 (0/166, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PSRC1 : 500B Downstream 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 166 AAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, 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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
European Sub 56 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Sub 102 AAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, 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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 2 AAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 100 AAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, 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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 2 AAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 0 AAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 6 AAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 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
Allele Frequency Aggregator Total Global 166 (A)23=1.000 del(A)15=0.000, 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)10=0.000
Allele Frequency Aggregator African Sub 102 (A)23=1.000 del(A)15=0.000, 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)10=0.000
Allele Frequency Aggregator European Sub 56 (A)23=1.00 del(A)15=0.00, 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)10=0.00
Allele Frequency Aggregator Other Sub 6 (A)23=1.0 del(A)15=0.0, del(A)13=0.0, del(A)12=0.0, del(A)11=0.0, del(A)10=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0, dup(A)5=0.0, dup(A)6=0.0, dup(A)10=0.0
Allele Frequency Aggregator Latin American 1 Sub 2 (A)23=1.0 del(A)15=0.0, del(A)13=0.0, del(A)12=0.0, del(A)11=0.0, del(A)10=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0, dup(A)5=0.0, dup(A)6=0.0, dup(A)10=0.0
Allele Frequency Aggregator Latin American 2 Sub 0 (A)23=0 del(A)15=0, del(A)13=0, del(A)12=0, del(A)11=0, del(A)10=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)4=0, dup(A)5=0, dup(A)6=0, dup(A)10=0
Allele Frequency Aggregator South Asian Sub 0 (A)23=0 del(A)15=0, del(A)13=0, del(A)12=0, del(A)11=0, del(A)10=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)4=0, dup(A)5=0, dup(A)6=0, dup(A)10=0
Allele Frequency Aggregator Asian Sub 0 (A)23=0 del(A)15=0, del(A)13=0, del(A)12=0, del(A)11=0, del(A)10=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)4=0, dup(A)5=0, dup(A)6=0, dup(A)10=0
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 1 NC_000001.11:g.109279200_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279202_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279203_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279204_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279205_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279206_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279207_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279208_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279209_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279210_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279211_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279212_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279213_109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279214del
GRCh38.p14 chr 1 NC_000001.11:g.109279214dup
GRCh38.p14 chr 1 NC_000001.11:g.109279213_109279214dup
GRCh38.p14 chr 1 NC_000001.11:g.109279212_109279214dup
GRCh38.p14 chr 1 NC_000001.11:g.109279211_109279214dup
GRCh38.p14 chr 1 NC_000001.11:g.109279210_109279214dup
GRCh38.p14 chr 1 NC_000001.11:g.109279209_109279214dup
GRCh38.p14 chr 1 NC_000001.11:g.109279208_109279214dup
GRCh38.p14 chr 1 NC_000001.11:g.109279207_109279214dup
GRCh38.p14 chr 1 NC_000001.11:g.109279206_109279214dup
GRCh38.p14 chr 1 NC_000001.11:g.109279205_109279214dup
GRCh37.p13 chr 1 NC_000001.10:g.109821822_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821824_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821825_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821826_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821827_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821828_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821829_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821830_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821831_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821832_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821833_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821834_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821835_109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821836del
GRCh37.p13 chr 1 NC_000001.10:g.109821836dup
GRCh37.p13 chr 1 NC_000001.10:g.109821835_109821836dup
GRCh37.p13 chr 1 NC_000001.10:g.109821834_109821836dup
GRCh37.p13 chr 1 NC_000001.10:g.109821833_109821836dup
GRCh37.p13 chr 1 NC_000001.10:g.109821832_109821836dup
GRCh37.p13 chr 1 NC_000001.10:g.109821831_109821836dup
GRCh37.p13 chr 1 NC_000001.10:g.109821830_109821836dup
GRCh37.p13 chr 1 NC_000001.10:g.109821829_109821836dup
GRCh37.p13 chr 1 NC_000001.10:g.109821828_109821836dup
GRCh37.p13 chr 1 NC_000001.10:g.109821827_109821836dup
Gene: PSRC1, proline and serine rich coiled-coil 1 (minus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
PSRC1 transcript variant 2 NM_001005290.4:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 3 NM_001032291.3:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 5 NM_001350237.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 6 NM_001350238.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 7 NM_001350239.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 8 NM_001350240.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 9 NM_001350241.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 10 NM_001350242.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 11 NM_001363309.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 12 NM_001394002.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 13 NM_001394003.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 14 NM_001394004.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 15 NM_001394005.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant 1 NM_032636.8:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X11 XM_005271283.4:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X1 XM_017002560.3:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X3 XM_017002562.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X5 XM_017002563.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X2 XM_017002564.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X4 XM_017002566.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X6 XM_017002567.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X9 XM_017002569.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X12 XM_017002570.2:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X7 XM_047432251.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X8 XM_047432255.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X10 XM_047432264.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X13 XM_047432272.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X14 XM_047432274.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X15 XM_047432275.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X16 XM_047432277.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X17 XM_047432284.1:c. N/A Downstream Transcript Variant
PSRC1 transcript variant X18 XM_047432294.1:c. N/A Downstream 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)23= del(A)15 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
GRCh38.p14 chr 1 NC_000001.11:g.109279192_109279214= NC_000001.11:g.109279200_109279214del NC_000001.11:g.109279202_109279214del NC_000001.11:g.109279203_109279214del NC_000001.11:g.109279204_109279214del NC_000001.11:g.109279205_109279214del NC_000001.11:g.109279206_109279214del NC_000001.11:g.109279207_109279214del NC_000001.11:g.109279208_109279214del NC_000001.11:g.109279209_109279214del NC_000001.11:g.109279210_109279214del NC_000001.11:g.109279211_109279214del NC_000001.11:g.109279212_109279214del NC_000001.11:g.109279213_109279214del NC_000001.11:g.109279214del NC_000001.11:g.109279214dup NC_000001.11:g.109279213_109279214dup NC_000001.11:g.109279212_109279214dup NC_000001.11:g.109279211_109279214dup NC_000001.11:g.109279210_109279214dup NC_000001.11:g.109279209_109279214dup NC_000001.11:g.109279208_109279214dup NC_000001.11:g.109279207_109279214dup NC_000001.11:g.109279206_109279214dup NC_000001.11:g.109279205_109279214dup
GRCh37.p13 chr 1 NC_000001.10:g.109821814_109821836= NC_000001.10:g.109821822_109821836del NC_000001.10:g.109821824_109821836del NC_000001.10:g.109821825_109821836del NC_000001.10:g.109821826_109821836del NC_000001.10:g.109821827_109821836del NC_000001.10:g.109821828_109821836del NC_000001.10:g.109821829_109821836del NC_000001.10:g.109821830_109821836del NC_000001.10:g.109821831_109821836del NC_000001.10:g.109821832_109821836del NC_000001.10:g.109821833_109821836del NC_000001.10:g.109821834_109821836del NC_000001.10:g.109821835_109821836del NC_000001.10:g.109821836del NC_000001.10:g.109821836dup NC_000001.10:g.109821835_109821836dup NC_000001.10:g.109821834_109821836dup NC_000001.10:g.109821833_109821836dup NC_000001.10:g.109821832_109821836dup NC_000001.10:g.109821831_109821836dup NC_000001.10:g.109821830_109821836dup NC_000001.10:g.109821829_109821836dup NC_000001.10:g.109821828_109821836dup NC_000001.10:g.109821827_109821836dup
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#.

62 SubSNP, 41 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95240036 Oct 11, 2018 (152)
2 PJP ss294597840 May 31, 2013 (138)
3 PJP ss294597841 Oct 11, 2018 (152)
4 EVA_UK10K_TWINSUK ss1701089128 Apr 01, 2015 (144)
5 EVA_UK10K_ALSPAC ss1701089131 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1701089132 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1701089135 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1701089136 Apr 01, 2015 (144)
9 EVA_UK10K_ALSPAC ss1701089139 Apr 01, 2015 (144)
10 SWEGEN ss2987416866 Nov 08, 2017 (151)
11 EVA_DECODE ss3687504132 Jul 12, 2019 (153)
12 EVA_DECODE ss3687504133 Jul 12, 2019 (153)
13 EVA_DECODE ss3687504134 Jul 12, 2019 (153)
14 EVA_DECODE ss3687504135 Jul 12, 2019 (153)
15 EVA_DECODE ss3687504136 Jul 12, 2019 (153)
16 EVA_DECODE ss3687504137 Jul 12, 2019 (153)
17 PACBIO ss3783515737 Jul 12, 2019 (153)
18 PACBIO ss3789158164 Jul 12, 2019 (153)
19 PACBIO ss3789158165 Jul 12, 2019 (153)
20 PACBIO ss3794031075 Jul 12, 2019 (153)
21 PACBIO ss3794031076 Jul 12, 2019 (153)
22 EVA ss3826362451 Apr 25, 2020 (154)
23 GNOMAD ss4000209262 Apr 25, 2021 (155)
24 GNOMAD ss4000209263 Apr 25, 2021 (155)
25 GNOMAD ss4000209264 Apr 25, 2021 (155)
26 GNOMAD ss4000209265 Apr 25, 2021 (155)
27 GNOMAD ss4000209266 Apr 25, 2021 (155)
28 GNOMAD ss4000209267 Apr 25, 2021 (155)
29 GNOMAD ss4000209268 Apr 25, 2021 (155)
30 GNOMAD ss4000209269 Apr 25, 2021 (155)
31 GNOMAD ss4000209270 Apr 25, 2021 (155)
32 GNOMAD ss4000209272 Apr 25, 2021 (155)
33 GNOMAD ss4000209273 Apr 25, 2021 (155)
34 GNOMAD ss4000209274 Apr 25, 2021 (155)
35 GNOMAD ss4000209275 Apr 25, 2021 (155)
36 GNOMAD ss4000209276 Apr 25, 2021 (155)
37 GNOMAD ss4000209277 Apr 25, 2021 (155)
38 GNOMAD ss4000209278 Apr 25, 2021 (155)
39 GNOMAD ss4000209279 Apr 25, 2021 (155)
40 GNOMAD ss4000209280 Apr 25, 2021 (155)
41 GNOMAD ss4000209281 Apr 25, 2021 (155)
42 GNOMAD ss4000209282 Apr 25, 2021 (155)
43 GNOMAD ss4000209283 Apr 25, 2021 (155)
44 GNOMAD ss4000209284 Apr 25, 2021 (155)
45 GNOMAD ss4000209285 Apr 25, 2021 (155)
46 TOMMO_GENOMICS ss5145621554 Apr 25, 2021 (155)
47 TOMMO_GENOMICS ss5145621555 Apr 25, 2021 (155)
48 TOMMO_GENOMICS ss5145621556 Apr 25, 2021 (155)
49 TOMMO_GENOMICS ss5145621557 Apr 25, 2021 (155)
50 TOMMO_GENOMICS ss5145621558 Apr 25, 2021 (155)
51 TOMMO_GENOMICS ss5145621559 Apr 25, 2021 (155)
52 HUGCELL_USP ss5444492323 Oct 12, 2022 (156)
53 HUGCELL_USP ss5444492324 Oct 12, 2022 (156)
54 HUGCELL_USP ss5444492325 Oct 12, 2022 (156)
55 TOMMO_GENOMICS ss5670871875 Oct 12, 2022 (156)
56 TOMMO_GENOMICS ss5670871876 Oct 12, 2022 (156)
57 TOMMO_GENOMICS ss5670871877 Oct 12, 2022 (156)
58 TOMMO_GENOMICS ss5670871878 Oct 12, 2022 (156)
59 TOMMO_GENOMICS ss5670871880 Oct 12, 2022 (156)
60 EVA ss5832465845 Oct 12, 2022 (156)
61 EVA ss5832465846 Oct 12, 2022 (156)
62 EVA ss5832465847 Oct 12, 2022 (156)
63 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 1741649 (NC_000001.10:109821813::AAA 3292/3854)
Row 1741650 (NC_000001.10:109821813::AAAA 446/3854)
Row 1741651 (NC_000001.10:109821813::AAAAA 115/3854)

- Oct 11, 2018 (152)
64 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 1741649 (NC_000001.10:109821813::AAA 3292/3854)
Row 1741650 (NC_000001.10:109821813::AAAA 446/3854)
Row 1741651 (NC_000001.10:109821813::AAAAA 115/3854)

- Oct 11, 2018 (152)
65 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 1741649 (NC_000001.10:109821813::AAA 3292/3854)
Row 1741650 (NC_000001.10:109821813::AAAA 446/3854)
Row 1741651 (NC_000001.10:109821813::AAAAA 115/3854)

- Oct 11, 2018 (152)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
85 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22307073 (NC_000001.11:109279191::A 1057/35632)
Row 22307074 (NC_000001.11:109279191::AA 6484/35618)
Row 22307075 (NC_000001.11:109279191::AAA 19987/35790)...

- Apr 25, 2021 (155)
89 8.3KJPN

Submission ignored due to conflicting rows:
Row 3590861 (NC_000001.10:109821813::AAA 7043/14634)
Row 3590862 (NC_000001.10:109821813::AAAA 3500/14634)
Row 3590863 (NC_000001.10:109821813::AA 470/14634)...

- Apr 25, 2021 (155)
90 8.3KJPN

Submission ignored due to conflicting rows:
Row 3590861 (NC_000001.10:109821813::AAA 7043/14634)
Row 3590862 (NC_000001.10:109821813::AAAA 3500/14634)
Row 3590863 (NC_000001.10:109821813::AA 470/14634)...

- Apr 25, 2021 (155)
91 8.3KJPN

Submission ignored due to conflicting rows:
Row 3590861 (NC_000001.10:109821813::AAA 7043/14634)
Row 3590862 (NC_000001.10:109821813::AAAA 3500/14634)
Row 3590863 (NC_000001.10:109821813::AA 470/14634)...

- Apr 25, 2021 (155)
92 8.3KJPN

Submission ignored due to conflicting rows:
Row 3590861 (NC_000001.10:109821813::AAA 7043/14634)
Row 3590862 (NC_000001.10:109821813::AAAA 3500/14634)
Row 3590863 (NC_000001.10:109821813::AA 470/14634)...

- Apr 25, 2021 (155)
93 8.3KJPN

Submission ignored due to conflicting rows:
Row 3590861 (NC_000001.10:109821813::AAA 7043/14634)
Row 3590862 (NC_000001.10:109821813::AAAA 3500/14634)
Row 3590863 (NC_000001.10:109821813::AA 470/14634)...

- Apr 25, 2021 (155)
94 8.3KJPN

Submission ignored due to conflicting rows:
Row 3590861 (NC_000001.10:109821813::AAA 7043/14634)
Row 3590862 (NC_000001.10:109821813::AAAA 3500/14634)
Row 3590863 (NC_000001.10:109821813::AA 470/14634)...

- Apr 25, 2021 (155)
95 14KJPN

Submission ignored due to conflicting rows:
Row 4708979 (NC_000001.11:109279191::AAA 9783/20656)
Row 4708980 (NC_000001.11:109279191::AA 567/20656)
Row 4708981 (NC_000001.11:109279191::AAAA 4940/20656)...

- Oct 12, 2022 (156)
96 14KJPN

Submission ignored due to conflicting rows:
Row 4708979 (NC_000001.11:109279191::AAA 9783/20656)
Row 4708980 (NC_000001.11:109279191::AA 567/20656)
Row 4708981 (NC_000001.11:109279191::AAAA 4940/20656)...

- Oct 12, 2022 (156)
97 14KJPN

Submission ignored due to conflicting rows:
Row 4708979 (NC_000001.11:109279191::AAA 9783/20656)
Row 4708980 (NC_000001.11:109279191::AA 567/20656)
Row 4708981 (NC_000001.11:109279191::AAAA 4940/20656)...

- Oct 12, 2022 (156)
98 14KJPN

Submission ignored due to conflicting rows:
Row 4708979 (NC_000001.11:109279191::AAA 9783/20656)
Row 4708980 (NC_000001.11:109279191::AA 567/20656)
Row 4708981 (NC_000001.11:109279191::AAAA 4940/20656)...

- Oct 12, 2022 (156)
99 14KJPN

Submission ignored due to conflicting rows:
Row 4708979 (NC_000001.11:109279191::AAA 9783/20656)
Row 4708980 (NC_000001.11:109279191::AA 567/20656)
Row 4708981 (NC_000001.11:109279191::AAAA 4940/20656)...

- Oct 12, 2022 (156)
100 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 1741649 (NC_000001.10:109821813::AAA 3235/3708)
Row 1741650 (NC_000001.10:109821813::AAAA 379/3708)
Row 1741651 (NC_000001.10:109821813::AAAAA 94/3708)

- Oct 11, 2018 (152)
101 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 1741649 (NC_000001.10:109821813::AAA 3235/3708)
Row 1741650 (NC_000001.10:109821813::AAAA 379/3708)
Row 1741651 (NC_000001.10:109821813::AAAAA 94/3708)

- Oct 11, 2018 (152)
102 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 1741649 (NC_000001.10:109821813::AAA 3235/3708)
Row 1741650 (NC_000001.10:109821813::AAAA 379/3708)
Row 1741651 (NC_000001.10:109821813::AAAAA 94/3708)

- Oct 11, 2018 (152)
103 ALFA NC_000001.11 - 109279192 Apr 25, 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
ss4000209285 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAA:

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
ss4000209284 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAA:

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4000209283 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAA:

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss5145621558 NC_000001.10:109821813:AAAAAAAAAAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4000209282 NC_000001.11:109279191:AAAAAAAAAAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4000209281 NC_000001.11:109279191:AAAAAAAAAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4000209280 NC_000001.11:109279191:AAAAAAAAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3687504137, ss4000209279 NC_000001.11:109279191:AAAAAAAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4000209278 NC_000001.11:109279191:AAAAAAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4000209277 NC_000001.11:109279191:AAAAAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4000209276 NC_000001.11:109279191:AAAAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss2987416866, ss3826362451 NC_000001.10:109821813:AAAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4000209275, ss5444492325 NC_000001.11:109279191:AAAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4000209274 NC_000001.11:109279191:AAA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4000209273 NC_000001.11:109279191:AA: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4000209272 NC_000001.11:109279191:A: NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000209262, ss5444492324 NC_000001.11:109279191::A NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687504136 NC_000001.11:109279199::A NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3789158164, ss3794031075, ss5145621556, ss5832465846 NC_000001.10:109821813::AA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000209263, ss5670871876 NC_000001.11:109279191::AA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687504135 NC_000001.11:109279199::AA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss294597840 NC_000001.9:109623337::AAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss294597841 NC_000001.9:109623357::AAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss1701089128, ss1701089131, ss5145621554, ss5832465845 NC_000001.10:109821813::AAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000209264, ss5444492323, ss5670871875 NC_000001.11:109279191::AAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687504134 NC_000001.11:109279199::AAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss95240036 NT_032977.9:79793754::AAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss1701089132, ss1701089135, ss3783515737, ss3789158165, ss3794031076, ss5145621555, ss5832465847 NC_000001.10:109821813::AAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000209265, ss5670871877 NC_000001.11:109279191::AAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687504133 NC_000001.11:109279199::AAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss1701089136, ss1701089139, ss5145621557 NC_000001.10:109821813::AAAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000209266, ss5670871878 NC_000001.11:109279191::AAAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5145621559 NC_000001.10:109821813::AAAAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000209267, ss5670871880 NC_000001.11:109279191::AAAAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687504132 NC_000001.11:109279199::AAAAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000209268 NC_000001.11:109279191::AAAAAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000209269 NC_000001.11:109279191::AAAAAAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000209270 NC_000001.11:109279191::AAAAAAAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
12597038956 NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3086461355 NC_000001.11:109279191::AAAAAAAAAA NC_000001.11:109279191:AAAAAAAAAAA…

NC_000001.11:109279191:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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 rs386368024

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