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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.

rs901808584

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:68802897-68802920 (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)21 / del(A)16 / del(A)13 / d…

del(A)21 / del(A)16 / 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)11 / dup(A)12 / dup(A)13 / dup(A)14 / dup(A)15 / dup(A)16 / dup(A)17 / dup(A)18 / dup(A)19 / dup(A)20

Variation Type
Indel Insertion and Deletion
Frequency
del(A)12=0.000034 (9/264690, TOPMED)
del(A)21=0.00000 (0/11998, ALFA)
del(A)16=0.00000 (0/11998, ALFA) (+ 17 more)
del(A)13=0.00000 (0/11998, ALFA)
del(A)12=0.00000 (0/11998, ALFA)
del(A)11=0.00000 (0/11998, ALFA)
del(A)10=0.00000 (0/11998, ALFA)
del(A)9=0.00000 (0/11998, ALFA)
del(A)8=0.00000 (0/11998, ALFA)
del(A)7=0.00000 (0/11998, ALFA)
del(A)6=0.00000 (0/11998, ALFA)
del(A)5=0.00000 (0/11998, ALFA)
del(A)4=0.00000 (0/11998, ALFA)
delAAA=0.00000 (0/11998, ALFA)
delAA=0.00000 (0/11998, ALFA)
delA=0.00000 (0/11998, ALFA)
dupA=0.00000 (0/11998, ALFA)
dupAA=0.00000 (0/11998, ALFA)
dupAAA=0.00000 (0/11998, ALFA)
dup(A)8=0.00000 (0/11998, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CPT1A : 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 11998 AAAAAAAAAAAAAAAAAAAAAAAA=1.00000 AAA=0.00000, AAAAAAAA=0.00000, AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00000 1.0 0.0 0.0 N/A
European Sub 9074 AAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, 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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1634 AAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, 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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 68 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAA=0.00, AAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1566 AAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, 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, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 104 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAA=0.000, AAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
East Asian Sub 80 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAA=0.00, AAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAA=0.00, AAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 128 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAA=0.000, AAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 572 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAA=0.000, AAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAA=0.00, AAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 392 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAA=0.000, AAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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
TopMed Global Study-wide 264690 (A)24=0.999966 del(A)12=0.000034
Allele Frequency Aggregator Total Global 11998 (A)24=1.00000 del(A)21=0.00000, del(A)16=0.00000, del(A)13=0.00000, del(A)12=0.00000, del(A)11=0.00000, del(A)10=0.00000, del(A)9=0.00000, del(A)8=0.00000, del(A)7=0.00000, del(A)6=0.00000, del(A)5=0.00000, del(A)4=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00000, dupA=0.00000, dupAA=0.00000, dupAAA=0.00000, dup(A)8=0.00000
Allele Frequency Aggregator European Sub 9074 (A)24=1.0000 del(A)21=0.0000, del(A)16=0.0000, 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)8=0.0000
Allele Frequency Aggregator African Sub 1634 (A)24=1.0000 del(A)21=0.0000, del(A)16=0.0000, 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)8=0.0000
Allele Frequency Aggregator Latin American 2 Sub 572 (A)24=1.000 del(A)21=0.000, del(A)16=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)8=0.000
Allele Frequency Aggregator Other Sub 392 (A)24=1.000 del(A)21=0.000, del(A)16=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)8=0.000
Allele Frequency Aggregator Latin American 1 Sub 128 (A)24=1.000 del(A)21=0.000, del(A)16=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)8=0.000
Allele Frequency Aggregator Asian Sub 104 (A)24=1.000 del(A)21=0.000, del(A)16=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)8=0.000
Allele Frequency Aggregator South Asian Sub 94 (A)24=1.00 del(A)21=0.00, del(A)16=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)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 11 NC_000011.10:g.68802900_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802905_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802908_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802909_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802910_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802911_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802912_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802913_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802914_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802915_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802916_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802917_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802918_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802919_68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802920del
GRCh38.p14 chr 11 NC_000011.10:g.68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802919_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802918_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802917_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802916_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802915_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802914_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802913_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802910_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802909_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802908_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802907_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802906_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802905_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802904_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802903_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802902_68802920dup
GRCh38.p14 chr 11 NC_000011.10:g.68802901_68802920dup
GRCh37.p13 chr 11 NC_000011.9:g.68570368_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570373_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570376_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570377_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570378_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570379_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570380_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570381_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570382_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570383_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570384_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570385_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570386_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570387_68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570388del
GRCh37.p13 chr 11 NC_000011.9:g.68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570387_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570386_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570385_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570384_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570383_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570382_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570381_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570378_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570377_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570376_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570375_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570374_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570373_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570372_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570371_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570370_68570388dup
GRCh37.p13 chr 11 NC_000011.9:g.68570369_68570388dup
CPT1A RefSeqGene NG_011801.1:g.44015_44035del
CPT1A RefSeqGene NG_011801.1:g.44020_44035del
CPT1A RefSeqGene NG_011801.1:g.44023_44035del
CPT1A RefSeqGene NG_011801.1:g.44024_44035del
CPT1A RefSeqGene NG_011801.1:g.44025_44035del
CPT1A RefSeqGene NG_011801.1:g.44026_44035del
CPT1A RefSeqGene NG_011801.1:g.44027_44035del
CPT1A RefSeqGene NG_011801.1:g.44028_44035del
CPT1A RefSeqGene NG_011801.1:g.44029_44035del
CPT1A RefSeqGene NG_011801.1:g.44030_44035del
CPT1A RefSeqGene NG_011801.1:g.44031_44035del
CPT1A RefSeqGene NG_011801.1:g.44032_44035del
CPT1A RefSeqGene NG_011801.1:g.44033_44035del
CPT1A RefSeqGene NG_011801.1:g.44034_44035del
CPT1A RefSeqGene NG_011801.1:g.44035del
CPT1A RefSeqGene NG_011801.1:g.44035dup
CPT1A RefSeqGene NG_011801.1:g.44034_44035dup
CPT1A RefSeqGene NG_011801.1:g.44033_44035dup
CPT1A RefSeqGene NG_011801.1:g.44032_44035dup
CPT1A RefSeqGene NG_011801.1:g.44031_44035dup
CPT1A RefSeqGene NG_011801.1:g.44030_44035dup
CPT1A RefSeqGene NG_011801.1:g.44029_44035dup
CPT1A RefSeqGene NG_011801.1:g.44028_44035dup
CPT1A RefSeqGene NG_011801.1:g.44025_44035dup
CPT1A RefSeqGene NG_011801.1:g.44024_44035dup
CPT1A RefSeqGene NG_011801.1:g.44023_44035dup
CPT1A RefSeqGene NG_011801.1:g.44022_44035dup
CPT1A RefSeqGene NG_011801.1:g.44021_44035dup
CPT1A RefSeqGene NG_011801.1:g.44020_44035dup
CPT1A RefSeqGene NG_011801.1:g.44019_44035dup
CPT1A RefSeqGene NG_011801.1:g.44018_44035dup
CPT1A RefSeqGene NG_011801.1:g.44017_44035dup
CPT1A RefSeqGene NG_011801.1:g.44016_44035dup
Gene: CPT1A, carnitine palmitoyltransferase 1A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CPT1A transcript variant 2 NM_001031847.3:c.555+1083…

NM_001031847.3:c.555+1083_555+1103del

N/A Intron Variant
CPT1A transcript variant 1 NM_001876.4:c.555+1083_55…

NM_001876.4:c.555+1083_555+1103del

N/A Intron Variant
CPT1A transcript variant X3 XM_017017220.2:c.555+1083…

XM_017017220.2:c.555+1083_555+1103del

N/A Intron Variant
CPT1A transcript variant X1 XM_047426376.1:c.651+1083…

XM_047426376.1:c.651+1083_651+1103del

N/A Intron Variant
CPT1A transcript variant X2 XM_047426377.1:c.651+1083…

XM_047426377.1:c.651+1083_651+1103del

N/A Intron Variant
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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
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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)24= del(A)21 del(A)16 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)11 dup(A)12 dup(A)13 dup(A)14 dup(A)15 dup(A)16 dup(A)17 dup(A)18 dup(A)19 dup(A)20
GRCh38.p14 chr 11 NC_000011.10:g.68802897_68802920= NC_000011.10:g.68802900_68802920del NC_000011.10:g.68802905_68802920del NC_000011.10:g.68802908_68802920del NC_000011.10:g.68802909_68802920del NC_000011.10:g.68802910_68802920del NC_000011.10:g.68802911_68802920del NC_000011.10:g.68802912_68802920del NC_000011.10:g.68802913_68802920del NC_000011.10:g.68802914_68802920del NC_000011.10:g.68802915_68802920del NC_000011.10:g.68802916_68802920del NC_000011.10:g.68802917_68802920del NC_000011.10:g.68802918_68802920del NC_000011.10:g.68802919_68802920del NC_000011.10:g.68802920del NC_000011.10:g.68802920dup NC_000011.10:g.68802919_68802920dup NC_000011.10:g.68802918_68802920dup NC_000011.10:g.68802917_68802920dup NC_000011.10:g.68802916_68802920dup NC_000011.10:g.68802915_68802920dup NC_000011.10:g.68802914_68802920dup NC_000011.10:g.68802913_68802920dup NC_000011.10:g.68802910_68802920dup NC_000011.10:g.68802909_68802920dup NC_000011.10:g.68802908_68802920dup NC_000011.10:g.68802907_68802920dup NC_000011.10:g.68802906_68802920dup NC_000011.10:g.68802905_68802920dup NC_000011.10:g.68802904_68802920dup NC_000011.10:g.68802903_68802920dup NC_000011.10:g.68802902_68802920dup NC_000011.10:g.68802901_68802920dup
GRCh37.p13 chr 11 NC_000011.9:g.68570365_68570388= NC_000011.9:g.68570368_68570388del NC_000011.9:g.68570373_68570388del NC_000011.9:g.68570376_68570388del NC_000011.9:g.68570377_68570388del NC_000011.9:g.68570378_68570388del NC_000011.9:g.68570379_68570388del NC_000011.9:g.68570380_68570388del NC_000011.9:g.68570381_68570388del NC_000011.9:g.68570382_68570388del NC_000011.9:g.68570383_68570388del NC_000011.9:g.68570384_68570388del NC_000011.9:g.68570385_68570388del NC_000011.9:g.68570386_68570388del NC_000011.9:g.68570387_68570388del NC_000011.9:g.68570388del NC_000011.9:g.68570388dup NC_000011.9:g.68570387_68570388dup NC_000011.9:g.68570386_68570388dup NC_000011.9:g.68570385_68570388dup NC_000011.9:g.68570384_68570388dup NC_000011.9:g.68570383_68570388dup NC_000011.9:g.68570382_68570388dup NC_000011.9:g.68570381_68570388dup NC_000011.9:g.68570378_68570388dup NC_000011.9:g.68570377_68570388dup NC_000011.9:g.68570376_68570388dup NC_000011.9:g.68570375_68570388dup NC_000011.9:g.68570374_68570388dup NC_000011.9:g.68570373_68570388dup NC_000011.9:g.68570372_68570388dup NC_000011.9:g.68570371_68570388dup NC_000011.9:g.68570370_68570388dup NC_000011.9:g.68570369_68570388dup
CPT1A RefSeqGene NG_011801.1:g.44012_44035= NG_011801.1:g.44015_44035del NG_011801.1:g.44020_44035del NG_011801.1:g.44023_44035del NG_011801.1:g.44024_44035del NG_011801.1:g.44025_44035del NG_011801.1:g.44026_44035del NG_011801.1:g.44027_44035del NG_011801.1:g.44028_44035del NG_011801.1:g.44029_44035del NG_011801.1:g.44030_44035del NG_011801.1:g.44031_44035del NG_011801.1:g.44032_44035del NG_011801.1:g.44033_44035del NG_011801.1:g.44034_44035del NG_011801.1:g.44035del NG_011801.1:g.44035dup NG_011801.1:g.44034_44035dup NG_011801.1:g.44033_44035dup NG_011801.1:g.44032_44035dup NG_011801.1:g.44031_44035dup NG_011801.1:g.44030_44035dup NG_011801.1:g.44029_44035dup NG_011801.1:g.44028_44035dup NG_011801.1:g.44025_44035dup NG_011801.1:g.44024_44035dup NG_011801.1:g.44023_44035dup NG_011801.1:g.44022_44035dup NG_011801.1:g.44021_44035dup NG_011801.1:g.44020_44035dup NG_011801.1:g.44019_44035dup NG_011801.1:g.44018_44035dup NG_011801.1:g.44017_44035dup NG_011801.1:g.44016_44035dup
CPT1A transcript variant 2 NM_001031847.2:c.555+1103= NM_001031847.2:c.555+1083_555+1103del NM_001031847.2:c.555+1088_555+1103del NM_001031847.2:c.555+1091_555+1103del NM_001031847.2:c.555+1092_555+1103del NM_001031847.2:c.555+1093_555+1103del NM_001031847.2:c.555+1094_555+1103del NM_001031847.2:c.555+1095_555+1103del NM_001031847.2:c.555+1096_555+1103del NM_001031847.2:c.555+1097_555+1103del NM_001031847.2:c.555+1098_555+1103del NM_001031847.2:c.555+1099_555+1103del NM_001031847.2:c.555+1100_555+1103del NM_001031847.2:c.555+1101_555+1103del NM_001031847.2:c.555+1102_555+1103del NM_001031847.2:c.555+1103del NM_001031847.2:c.555+1103dup NM_001031847.2:c.555+1102_555+1103dup NM_001031847.2:c.555+1101_555+1103dup NM_001031847.2:c.555+1100_555+1103dup NM_001031847.2:c.555+1099_555+1103dup NM_001031847.2:c.555+1098_555+1103dup NM_001031847.2:c.555+1097_555+1103dup NM_001031847.2:c.555+1096_555+1103dup NM_001031847.2:c.555+1093_555+1103dup NM_001031847.2:c.555+1092_555+1103dup NM_001031847.2:c.555+1091_555+1103dup NM_001031847.2:c.555+1090_555+1103dup NM_001031847.2:c.555+1089_555+1103dup NM_001031847.2:c.555+1088_555+1103dup NM_001031847.2:c.555+1087_555+1103dup NM_001031847.2:c.555+1086_555+1103dup NM_001031847.2:c.555+1085_555+1103dup NM_001031847.2:c.555+1084_555+1103dup
CPT1A transcript variant 2 NM_001031847.3:c.555+1103= NM_001031847.3:c.555+1083_555+1103del NM_001031847.3:c.555+1088_555+1103del NM_001031847.3:c.555+1091_555+1103del NM_001031847.3:c.555+1092_555+1103del NM_001031847.3:c.555+1093_555+1103del NM_001031847.3:c.555+1094_555+1103del NM_001031847.3:c.555+1095_555+1103del NM_001031847.3:c.555+1096_555+1103del NM_001031847.3:c.555+1097_555+1103del NM_001031847.3:c.555+1098_555+1103del NM_001031847.3:c.555+1099_555+1103del NM_001031847.3:c.555+1100_555+1103del NM_001031847.3:c.555+1101_555+1103del NM_001031847.3:c.555+1102_555+1103del NM_001031847.3:c.555+1103del NM_001031847.3:c.555+1103dup NM_001031847.3:c.555+1102_555+1103dup NM_001031847.3:c.555+1101_555+1103dup NM_001031847.3:c.555+1100_555+1103dup NM_001031847.3:c.555+1099_555+1103dup NM_001031847.3:c.555+1098_555+1103dup NM_001031847.3:c.555+1097_555+1103dup NM_001031847.3:c.555+1096_555+1103dup NM_001031847.3:c.555+1093_555+1103dup NM_001031847.3:c.555+1092_555+1103dup NM_001031847.3:c.555+1091_555+1103dup NM_001031847.3:c.555+1090_555+1103dup NM_001031847.3:c.555+1089_555+1103dup NM_001031847.3:c.555+1088_555+1103dup NM_001031847.3:c.555+1087_555+1103dup NM_001031847.3:c.555+1086_555+1103dup NM_001031847.3:c.555+1085_555+1103dup NM_001031847.3:c.555+1084_555+1103dup
CPT1A transcript variant 1 NM_001876.3:c.555+1103= NM_001876.3:c.555+1083_555+1103del NM_001876.3:c.555+1088_555+1103del NM_001876.3:c.555+1091_555+1103del NM_001876.3:c.555+1092_555+1103del NM_001876.3:c.555+1093_555+1103del NM_001876.3:c.555+1094_555+1103del NM_001876.3:c.555+1095_555+1103del NM_001876.3:c.555+1096_555+1103del NM_001876.3:c.555+1097_555+1103del NM_001876.3:c.555+1098_555+1103del NM_001876.3:c.555+1099_555+1103del NM_001876.3:c.555+1100_555+1103del NM_001876.3:c.555+1101_555+1103del NM_001876.3:c.555+1102_555+1103del NM_001876.3:c.555+1103del NM_001876.3:c.555+1103dup NM_001876.3:c.555+1102_555+1103dup NM_001876.3:c.555+1101_555+1103dup NM_001876.3:c.555+1100_555+1103dup NM_001876.3:c.555+1099_555+1103dup NM_001876.3:c.555+1098_555+1103dup NM_001876.3:c.555+1097_555+1103dup NM_001876.3:c.555+1096_555+1103dup NM_001876.3:c.555+1093_555+1103dup NM_001876.3:c.555+1092_555+1103dup NM_001876.3:c.555+1091_555+1103dup NM_001876.3:c.555+1090_555+1103dup NM_001876.3:c.555+1089_555+1103dup NM_001876.3:c.555+1088_555+1103dup NM_001876.3:c.555+1087_555+1103dup NM_001876.3:c.555+1086_555+1103dup NM_001876.3:c.555+1085_555+1103dup NM_001876.3:c.555+1084_555+1103dup
CPT1A transcript variant 1 NM_001876.4:c.555+1103= NM_001876.4:c.555+1083_555+1103del NM_001876.4:c.555+1088_555+1103del NM_001876.4:c.555+1091_555+1103del NM_001876.4:c.555+1092_555+1103del NM_001876.4:c.555+1093_555+1103del NM_001876.4:c.555+1094_555+1103del NM_001876.4:c.555+1095_555+1103del NM_001876.4:c.555+1096_555+1103del NM_001876.4:c.555+1097_555+1103del NM_001876.4:c.555+1098_555+1103del NM_001876.4:c.555+1099_555+1103del NM_001876.4:c.555+1100_555+1103del NM_001876.4:c.555+1101_555+1103del NM_001876.4:c.555+1102_555+1103del NM_001876.4:c.555+1103del NM_001876.4:c.555+1103dup NM_001876.4:c.555+1102_555+1103dup NM_001876.4:c.555+1101_555+1103dup NM_001876.4:c.555+1100_555+1103dup NM_001876.4:c.555+1099_555+1103dup NM_001876.4:c.555+1098_555+1103dup NM_001876.4:c.555+1097_555+1103dup NM_001876.4:c.555+1096_555+1103dup NM_001876.4:c.555+1093_555+1103dup NM_001876.4:c.555+1092_555+1103dup NM_001876.4:c.555+1091_555+1103dup NM_001876.4:c.555+1090_555+1103dup NM_001876.4:c.555+1089_555+1103dup NM_001876.4:c.555+1088_555+1103dup NM_001876.4:c.555+1087_555+1103dup NM_001876.4:c.555+1086_555+1103dup NM_001876.4:c.555+1085_555+1103dup NM_001876.4:c.555+1084_555+1103dup
CPT1A transcript variant X1 XM_005273762.1:c.651+1103= XM_005273762.1:c.651+1083_651+1103del XM_005273762.1:c.651+1088_651+1103del XM_005273762.1:c.651+1091_651+1103del XM_005273762.1:c.651+1092_651+1103del XM_005273762.1:c.651+1093_651+1103del XM_005273762.1:c.651+1094_651+1103del XM_005273762.1:c.651+1095_651+1103del XM_005273762.1:c.651+1096_651+1103del XM_005273762.1:c.651+1097_651+1103del XM_005273762.1:c.651+1098_651+1103del XM_005273762.1:c.651+1099_651+1103del XM_005273762.1:c.651+1100_651+1103del XM_005273762.1:c.651+1101_651+1103del XM_005273762.1:c.651+1102_651+1103del XM_005273762.1:c.651+1103del XM_005273762.1:c.651+1103dup XM_005273762.1:c.651+1102_651+1103dup XM_005273762.1:c.651+1101_651+1103dup XM_005273762.1:c.651+1100_651+1103dup XM_005273762.1:c.651+1099_651+1103dup XM_005273762.1:c.651+1098_651+1103dup XM_005273762.1:c.651+1097_651+1103dup XM_005273762.1:c.651+1096_651+1103dup XM_005273762.1:c.651+1093_651+1103dup XM_005273762.1:c.651+1092_651+1103dup XM_005273762.1:c.651+1091_651+1103dup XM_005273762.1:c.651+1090_651+1103dup XM_005273762.1:c.651+1089_651+1103dup XM_005273762.1:c.651+1088_651+1103dup XM_005273762.1:c.651+1087_651+1103dup XM_005273762.1:c.651+1086_651+1103dup XM_005273762.1:c.651+1085_651+1103dup XM_005273762.1:c.651+1084_651+1103dup
CPT1A transcript variant X2 XM_005273763.1:c.651+1103= XM_005273763.1:c.651+1083_651+1103del XM_005273763.1:c.651+1088_651+1103del XM_005273763.1:c.651+1091_651+1103del XM_005273763.1:c.651+1092_651+1103del XM_005273763.1:c.651+1093_651+1103del XM_005273763.1:c.651+1094_651+1103del XM_005273763.1:c.651+1095_651+1103del XM_005273763.1:c.651+1096_651+1103del XM_005273763.1:c.651+1097_651+1103del XM_005273763.1:c.651+1098_651+1103del XM_005273763.1:c.651+1099_651+1103del XM_005273763.1:c.651+1100_651+1103del XM_005273763.1:c.651+1101_651+1103del XM_005273763.1:c.651+1102_651+1103del XM_005273763.1:c.651+1103del XM_005273763.1:c.651+1103dup XM_005273763.1:c.651+1102_651+1103dup XM_005273763.1:c.651+1101_651+1103dup XM_005273763.1:c.651+1100_651+1103dup XM_005273763.1:c.651+1099_651+1103dup XM_005273763.1:c.651+1098_651+1103dup XM_005273763.1:c.651+1097_651+1103dup XM_005273763.1:c.651+1096_651+1103dup XM_005273763.1:c.651+1093_651+1103dup XM_005273763.1:c.651+1092_651+1103dup XM_005273763.1:c.651+1091_651+1103dup XM_005273763.1:c.651+1090_651+1103dup XM_005273763.1:c.651+1089_651+1103dup XM_005273763.1:c.651+1088_651+1103dup XM_005273763.1:c.651+1087_651+1103dup XM_005273763.1:c.651+1086_651+1103dup XM_005273763.1:c.651+1085_651+1103dup XM_005273763.1:c.651+1084_651+1103dup
CPT1A transcript variant X3 XM_005273764.1:c.555+1103= XM_005273764.1:c.555+1083_555+1103del XM_005273764.1:c.555+1088_555+1103del XM_005273764.1:c.555+1091_555+1103del XM_005273764.1:c.555+1092_555+1103del XM_005273764.1:c.555+1093_555+1103del XM_005273764.1:c.555+1094_555+1103del XM_005273764.1:c.555+1095_555+1103del XM_005273764.1:c.555+1096_555+1103del XM_005273764.1:c.555+1097_555+1103del XM_005273764.1:c.555+1098_555+1103del XM_005273764.1:c.555+1099_555+1103del XM_005273764.1:c.555+1100_555+1103del XM_005273764.1:c.555+1101_555+1103del XM_005273764.1:c.555+1102_555+1103del XM_005273764.1:c.555+1103del XM_005273764.1:c.555+1103dup XM_005273764.1:c.555+1102_555+1103dup XM_005273764.1:c.555+1101_555+1103dup XM_005273764.1:c.555+1100_555+1103dup XM_005273764.1:c.555+1099_555+1103dup XM_005273764.1:c.555+1098_555+1103dup XM_005273764.1:c.555+1097_555+1103dup XM_005273764.1:c.555+1096_555+1103dup XM_005273764.1:c.555+1093_555+1103dup XM_005273764.1:c.555+1092_555+1103dup XM_005273764.1:c.555+1091_555+1103dup XM_005273764.1:c.555+1090_555+1103dup XM_005273764.1:c.555+1089_555+1103dup XM_005273764.1:c.555+1088_555+1103dup XM_005273764.1:c.555+1087_555+1103dup XM_005273764.1:c.555+1086_555+1103dup XM_005273764.1:c.555+1085_555+1103dup XM_005273764.1:c.555+1084_555+1103dup
CPT1A transcript variant X3 XM_017017220.2:c.555+1103= XM_017017220.2:c.555+1083_555+1103del XM_017017220.2:c.555+1088_555+1103del XM_017017220.2:c.555+1091_555+1103del XM_017017220.2:c.555+1092_555+1103del XM_017017220.2:c.555+1093_555+1103del XM_017017220.2:c.555+1094_555+1103del XM_017017220.2:c.555+1095_555+1103del XM_017017220.2:c.555+1096_555+1103del XM_017017220.2:c.555+1097_555+1103del XM_017017220.2:c.555+1098_555+1103del XM_017017220.2:c.555+1099_555+1103del XM_017017220.2:c.555+1100_555+1103del XM_017017220.2:c.555+1101_555+1103del XM_017017220.2:c.555+1102_555+1103del XM_017017220.2:c.555+1103del XM_017017220.2:c.555+1103dup XM_017017220.2:c.555+1102_555+1103dup XM_017017220.2:c.555+1101_555+1103dup XM_017017220.2:c.555+1100_555+1103dup XM_017017220.2:c.555+1099_555+1103dup XM_017017220.2:c.555+1098_555+1103dup XM_017017220.2:c.555+1097_555+1103dup XM_017017220.2:c.555+1096_555+1103dup XM_017017220.2:c.555+1093_555+1103dup XM_017017220.2:c.555+1092_555+1103dup XM_017017220.2:c.555+1091_555+1103dup XM_017017220.2:c.555+1090_555+1103dup XM_017017220.2:c.555+1089_555+1103dup XM_017017220.2:c.555+1088_555+1103dup XM_017017220.2:c.555+1087_555+1103dup XM_017017220.2:c.555+1086_555+1103dup XM_017017220.2:c.555+1085_555+1103dup XM_017017220.2:c.555+1084_555+1103dup
CPT1A transcript variant X1 XM_047426376.1:c.651+1103= XM_047426376.1:c.651+1083_651+1103del XM_047426376.1:c.651+1088_651+1103del XM_047426376.1:c.651+1091_651+1103del XM_047426376.1:c.651+1092_651+1103del XM_047426376.1:c.651+1093_651+1103del XM_047426376.1:c.651+1094_651+1103del XM_047426376.1:c.651+1095_651+1103del XM_047426376.1:c.651+1096_651+1103del XM_047426376.1:c.651+1097_651+1103del XM_047426376.1:c.651+1098_651+1103del XM_047426376.1:c.651+1099_651+1103del XM_047426376.1:c.651+1100_651+1103del XM_047426376.1:c.651+1101_651+1103del XM_047426376.1:c.651+1102_651+1103del XM_047426376.1:c.651+1103del XM_047426376.1:c.651+1103dup XM_047426376.1:c.651+1102_651+1103dup XM_047426376.1:c.651+1101_651+1103dup XM_047426376.1:c.651+1100_651+1103dup XM_047426376.1:c.651+1099_651+1103dup XM_047426376.1:c.651+1098_651+1103dup XM_047426376.1:c.651+1097_651+1103dup XM_047426376.1:c.651+1096_651+1103dup XM_047426376.1:c.651+1093_651+1103dup XM_047426376.1:c.651+1092_651+1103dup XM_047426376.1:c.651+1091_651+1103dup XM_047426376.1:c.651+1090_651+1103dup XM_047426376.1:c.651+1089_651+1103dup XM_047426376.1:c.651+1088_651+1103dup XM_047426376.1:c.651+1087_651+1103dup XM_047426376.1:c.651+1086_651+1103dup XM_047426376.1:c.651+1085_651+1103dup XM_047426376.1:c.651+1084_651+1103dup
CPT1A transcript variant X2 XM_047426377.1:c.651+1103= XM_047426377.1:c.651+1083_651+1103del XM_047426377.1:c.651+1088_651+1103del XM_047426377.1:c.651+1091_651+1103del XM_047426377.1:c.651+1092_651+1103del XM_047426377.1:c.651+1093_651+1103del XM_047426377.1:c.651+1094_651+1103del XM_047426377.1:c.651+1095_651+1103del XM_047426377.1:c.651+1096_651+1103del XM_047426377.1:c.651+1097_651+1103del XM_047426377.1:c.651+1098_651+1103del XM_047426377.1:c.651+1099_651+1103del XM_047426377.1:c.651+1100_651+1103del XM_047426377.1:c.651+1101_651+1103del XM_047426377.1:c.651+1102_651+1103del XM_047426377.1:c.651+1103del XM_047426377.1:c.651+1103dup XM_047426377.1:c.651+1102_651+1103dup XM_047426377.1:c.651+1101_651+1103dup XM_047426377.1:c.651+1100_651+1103dup XM_047426377.1:c.651+1099_651+1103dup XM_047426377.1:c.651+1098_651+1103dup XM_047426377.1:c.651+1097_651+1103dup XM_047426377.1:c.651+1096_651+1103dup XM_047426377.1:c.651+1093_651+1103dup XM_047426377.1:c.651+1092_651+1103dup XM_047426377.1:c.651+1091_651+1103dup XM_047426377.1:c.651+1090_651+1103dup XM_047426377.1:c.651+1089_651+1103dup XM_047426377.1:c.651+1088_651+1103dup XM_047426377.1:c.651+1087_651+1103dup XM_047426377.1:c.651+1086_651+1103dup XM_047426377.1:c.651+1085_651+1103dup XM_047426377.1:c.651+1084_651+1103dup
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#.

60 SubSNP, 48 Frequency submissions
No Submitter Submission ID Date (Build)
1 PACBIO ss3797001698 Jul 13, 2019 (153)
2 PACBIO ss3797001699 Jul 13, 2019 (153)
3 KOGIC ss3970143236 Apr 26, 2020 (154)
4 KOGIC ss3970143237 Apr 26, 2020 (154)
5 KOGIC ss3970143238 Apr 26, 2020 (154)
6 KOGIC ss3970143239 Apr 26, 2020 (154)
7 KOGIC ss3970143240 Apr 26, 2020 (154)
8 KOGIC ss3970143241 Apr 26, 2020 (154)
9 GNOMAD ss4237053220 Apr 26, 2021 (155)
10 GNOMAD ss4237053221 Apr 26, 2021 (155)
11 GNOMAD ss4237053222 Apr 26, 2021 (155)
12 GNOMAD ss4237053223 Apr 26, 2021 (155)
13 GNOMAD ss4237053224 Apr 26, 2021 (155)
14 GNOMAD ss4237053225 Apr 26, 2021 (155)
15 GNOMAD ss4237053226 Apr 26, 2021 (155)
16 GNOMAD ss4237053227 Apr 26, 2021 (155)
17 GNOMAD ss4237053228 Apr 26, 2021 (155)
18 GNOMAD ss4237053229 Apr 26, 2021 (155)
19 GNOMAD ss4237053230 Apr 26, 2021 (155)
20 GNOMAD ss4237053231 Apr 26, 2021 (155)
21 GNOMAD ss4237053232 Apr 26, 2021 (155)
22 GNOMAD ss4237053233 Apr 26, 2021 (155)
23 GNOMAD ss4237053234 Apr 26, 2021 (155)
24 GNOMAD ss4237053235 Apr 26, 2021 (155)
25 GNOMAD ss4237053236 Apr 26, 2021 (155)
26 GNOMAD ss4237053237 Apr 26, 2021 (155)
27 GNOMAD ss4237053238 Apr 26, 2021 (155)
28 GNOMAD ss4237053239 Apr 26, 2021 (155)
29 GNOMAD ss4237053240 Apr 26, 2021 (155)
30 GNOMAD ss4237053241 Apr 26, 2021 (155)
31 GNOMAD ss4237053242 Apr 26, 2021 (155)
32 GNOMAD ss4237053243 Apr 26, 2021 (155)
33 GNOMAD ss4237053244 Apr 26, 2021 (155)
34 GNOMAD ss4237053245 Apr 26, 2021 (155)
35 GNOMAD ss4237053246 Apr 26, 2021 (155)
36 GNOMAD ss4237053247 Apr 26, 2021 (155)
37 GNOMAD ss4237053248 Apr 26, 2021 (155)
38 TOPMED ss4889205709 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5202505519 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5202505520 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5202505521 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5202505522 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5202505523 Apr 26, 2021 (155)
44 1000G_HIGH_COVERAGE ss5287817586 Oct 17, 2022 (156)
45 1000G_HIGH_COVERAGE ss5287817587 Oct 17, 2022 (156)
46 1000G_HIGH_COVERAGE ss5287817588 Oct 17, 2022 (156)
47 1000G_HIGH_COVERAGE ss5287817589 Oct 17, 2022 (156)
48 1000G_HIGH_COVERAGE ss5287817590 Oct 17, 2022 (156)
49 HUGCELL_USP ss5482943415 Oct 17, 2022 (156)
50 HUGCELL_USP ss5482943416 Oct 17, 2022 (156)
51 HUGCELL_USP ss5482943417 Oct 17, 2022 (156)
52 HUGCELL_USP ss5482943418 Oct 17, 2022 (156)
53 HUGCELL_USP ss5482943419 Oct 17, 2022 (156)
54 HUGCELL_USP ss5482943420 Oct 17, 2022 (156)
55 TOMMO_GENOMICS ss5750550470 Oct 17, 2022 (156)
56 TOMMO_GENOMICS ss5750550471 Oct 17, 2022 (156)
57 TOMMO_GENOMICS ss5750550472 Oct 17, 2022 (156)
58 TOMMO_GENOMICS ss5750550473 Oct 17, 2022 (156)
59 TOMMO_GENOMICS ss5750550475 Oct 17, 2022 (156)
60 EVA ss5850020337 Oct 17, 2022 (156)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

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

Submission ignored due to conflicting rows:
Row 383049383 (NC_000011.10:68802896::A 2548/40136)
Row 383049384 (NC_000011.10:68802896::AAA 12/41614)
Row 383049385 (NC_000011.10:68802896::AAAA 5/41648)...

- Apr 26, 2021 (155)
91 Korean Genome Project

Submission ignored due to conflicting rows:
Row 26521237 (NC_000011.10:68802902:A: 186/1720)
Row 26521238 (NC_000011.10:68802903::A 214/1720)
Row 26521239 (NC_000011.10:68802903::AA 76/1720)...

- Apr 26, 2020 (154)
92 Korean Genome Project

Submission ignored due to conflicting rows:
Row 26521237 (NC_000011.10:68802902:A: 186/1720)
Row 26521238 (NC_000011.10:68802903::A 214/1720)
Row 26521239 (NC_000011.10:68802903::AA 76/1720)...

- Apr 26, 2020 (154)
93 Korean Genome Project

Submission ignored due to conflicting rows:
Row 26521237 (NC_000011.10:68802902:A: 186/1720)
Row 26521238 (NC_000011.10:68802903::A 214/1720)
Row 26521239 (NC_000011.10:68802903::AA 76/1720)...

- Apr 26, 2020 (154)
94 Korean Genome Project

Submission ignored due to conflicting rows:
Row 26521237 (NC_000011.10:68802902:A: 186/1720)
Row 26521238 (NC_000011.10:68802903::A 214/1720)
Row 26521239 (NC_000011.10:68802903::AA 76/1720)...

- Apr 26, 2020 (154)
95 Korean Genome Project

Submission ignored due to conflicting rows:
Row 26521237 (NC_000011.10:68802902:A: 186/1720)
Row 26521238 (NC_000011.10:68802903::A 214/1720)
Row 26521239 (NC_000011.10:68802903::AA 76/1720)...

- Apr 26, 2020 (154)
96 Korean Genome Project

Submission ignored due to conflicting rows:
Row 26521237 (NC_000011.10:68802902:A: 186/1720)
Row 26521238 (NC_000011.10:68802903::A 214/1720)
Row 26521239 (NC_000011.10:68802903::AA 76/1720)...

- Apr 26, 2020 (154)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 60474826 (NC_000011.9:68570364:AAA: 455/16404)
Row 60474827 (NC_000011.9:68570364:AAAAAAA: 111/16404)
Row 60474828 (NC_000011.9:68570364::A 337/16404)...

- Apr 26, 2021 (155)
98 8.3KJPN

Submission ignored due to conflicting rows:
Row 60474826 (NC_000011.9:68570364:AAA: 455/16404)
Row 60474827 (NC_000011.9:68570364:AAAAAAA: 111/16404)
Row 60474828 (NC_000011.9:68570364::A 337/16404)...

- Apr 26, 2021 (155)
99 8.3KJPN

Submission ignored due to conflicting rows:
Row 60474826 (NC_000011.9:68570364:AAA: 455/16404)
Row 60474827 (NC_000011.9:68570364:AAAAAAA: 111/16404)
Row 60474828 (NC_000011.9:68570364::A 337/16404)...

- Apr 26, 2021 (155)
100 8.3KJPN

Submission ignored due to conflicting rows:
Row 60474826 (NC_000011.9:68570364:AAA: 455/16404)
Row 60474827 (NC_000011.9:68570364:AAAAAAA: 111/16404)
Row 60474828 (NC_000011.9:68570364::A 337/16404)...

- Apr 26, 2021 (155)
101 8.3KJPN

Submission ignored due to conflicting rows:
Row 60474826 (NC_000011.9:68570364:AAA: 455/16404)
Row 60474827 (NC_000011.9:68570364:AAAAAAA: 111/16404)
Row 60474828 (NC_000011.9:68570364::A 337/16404)...

- Apr 26, 2021 (155)
102 14KJPN

Submission ignored due to conflicting rows:
Row 84387574 (NC_000011.10:68802896:AA: 83/25192)
Row 84387575 (NC_000011.10:68802896:AAA: 687/25192)
Row 84387576 (NC_000011.10:68802896:AAAAAAA: 201/25192)...

- Oct 17, 2022 (156)
103 14KJPN

Submission ignored due to conflicting rows:
Row 84387574 (NC_000011.10:68802896:AA: 83/25192)
Row 84387575 (NC_000011.10:68802896:AAA: 687/25192)
Row 84387576 (NC_000011.10:68802896:AAAAAAA: 201/25192)...

- Oct 17, 2022 (156)
104 14KJPN

Submission ignored due to conflicting rows:
Row 84387574 (NC_000011.10:68802896:AA: 83/25192)
Row 84387575 (NC_000011.10:68802896:AAA: 687/25192)
Row 84387576 (NC_000011.10:68802896:AAAAAAA: 201/25192)...

- Oct 17, 2022 (156)
105 14KJPN

Submission ignored due to conflicting rows:
Row 84387574 (NC_000011.10:68802896:AA: 83/25192)
Row 84387575 (NC_000011.10:68802896:AAA: 687/25192)
Row 84387576 (NC_000011.10:68802896:AAAAAAA: 201/25192)...

- Oct 17, 2022 (156)
106 14KJPN

Submission ignored due to conflicting rows:
Row 84387574 (NC_000011.10:68802896:AA: 83/25192)
Row 84387575 (NC_000011.10:68802896:AAA: 687/25192)
Row 84387576 (NC_000011.10:68802896:AAAAAAA: 201/25192)...

- Oct 17, 2022 (156)
107 TopMed NC_000011.10 - 68802897 Apr 26, 2021 (155)
108 ALFA NC_000011.10 - 68802897 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
ss4237053248 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAA:

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAA

(self)
ss4237053247 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAA:

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
ss4237053246 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAA:

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
104751365, ss4237053245, ss4889205709 NC_000011.10:68802896:AAAAAAAAAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4237053244 NC_000011.10:68802896:AAAAAAAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4237053243 NC_000011.10:68802896:AAAAAAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4237053242 NC_000011.10:68802896:AAAAAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5202505520 NC_000011.9:68570364:AAAAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3970143239, ss4237053241, ss5750550472 NC_000011.10:68802896:AAAAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4237053240 NC_000011.10:68802896:AAAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4237053239, ss5287817590, ss5482943420 NC_000011.10:68802896:AAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5202505519 NC_000011.9:68570364:AAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053238, ss5287817589, ss5750550471 NC_000011.10:68802896:AAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3970143240 NC_000011.10:68802900:AAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss5202505522 NC_000011.9:68570364:AA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053237, ss5287817586, ss5482943419, ss5750550470 NC_000011.10:68802896:AA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3970143241 NC_000011.10:68802901:AA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5202505523 NC_000011.9:68570364:A: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5287817587, ss5482943417, ss5750550475 NC_000011.10:68802896:A: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3970143236 NC_000011.10:68802902:A: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3797001698, ss5202505521 NC_000011.9:68570364::A NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053220, ss5287817588, ss5482943415, ss5750550473 NC_000011.10:68802896::A NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3970143237 NC_000011.10:68802903::A NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3797001699 NC_000011.9:68570364::AA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5482943418 NC_000011.10:68802896::AA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3970143238 NC_000011.10:68802903::AA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053221 NC_000011.10:68802896::AAA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053222 NC_000011.10:68802896::AAAA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053223 NC_000011.10:68802896::AAAAA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053224, ss5482943416 NC_000011.10:68802896::AAAAAA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053225, ss5850020337 NC_000011.10:68802896::AAAAAAA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053226 NC_000011.10:68802896::AAAAAAAA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
14025348407 NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053227 NC_000011.10:68802896::AAAAAAAAAAA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053228 NC_000011.10:68802896::AAAAAAAAAAAA NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053229 NC_000011.10:68802896::AAAAAAAAAAA…

NC_000011.10:68802896::AAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053230 NC_000011.10:68802896::AAAAAAAAAAA…

NC_000011.10:68802896::AAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053231 NC_000011.10:68802896::AAAAAAAAAAA…

NC_000011.10:68802896::AAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053232 NC_000011.10:68802896::AAAAAAAAAAA…

NC_000011.10:68802896::AAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053233 NC_000011.10:68802896::AAAAAAAAAAA…

NC_000011.10:68802896::AAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053234 NC_000011.10:68802896::AAAAAAAAAAA…

NC_000011.10:68802896::AAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053235 NC_000011.10:68802896::AAAAAAAAAAA…

NC_000011.10:68802896::AAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4237053236 NC_000011.10:68802896::AAAAAAAAAAA…

NC_000011.10:68802896::AAAAAAAAAAAAAAAAAAAA

NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2346702199 NC_000011.9:68570364:AAAAAAAAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

ss2346702200 NC_000011.9:68570364:AAAAAAAAAAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

ss3148360043 NC_000011.10:68802896:AAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

ss3148360046 NC_000011.10:68802896:AAAAAAAAAAA: NC_000011.10:68802896:AAAAAAAAAAAA…

NC_000011.10:68802896:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

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 rs901808584

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