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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1059509

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:29943377 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.04267 (1926/45132, GnomAD)
A=0.28708 (6197/21586, ALFA)
A=0.29608 (5160/17428, 14KJPN) (+ 11 more)
C=0.39660 (6647/16760, 8.3KJPN)
A=0.1092 (699/6404, 1000G_30x)
A=0.4585 (2296/5008, 1000G)
C=0.4686 (1372/2928, KOREAN)
C=0.371 (320/862, Korea1K)
A=0.437 (267/611, Vietnamese)
C=0.467 (280/600, NorthernSweden)
A=0.107 (57/534, MGP)
C=0.291 (118/406, SGDP_PRJ)
C=0.481 (104/216, Qatari)
C=0.33 (8/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HLA-A : Missense Variant
LOC124901298 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 21586 C=0.71292 A=0.28708, G=0.00000, T=0.00000
European Sub 15800 C=0.69361 A=0.30639, G=0.00000, T=0.00000
African Sub 2676 C=0.8700 A=0.1300, G=0.0000, T=0.0000
African Others Sub 76 C=0.87 A=0.13, G=0.00, T=0.00
African American Sub 2600 C=0.8700 A=0.1300, G=0.0000, T=0.0000
Asian Sub 112 C=0.696 A=0.304, G=0.000, T=0.000
East Asian Sub 68 C=0.76 A=0.24, G=0.00, T=0.00
Other Asian Sub 44 C=0.59 A=0.41, G=0.00, T=0.00
Latin American 1 Sub 92 C=1.00 A=0.00, G=0.00, T=0.00
Latin American 2 Sub 234 C=1.000 A=0.000, G=0.000, T=0.000
South Asian Sub 58 C=1.00 A=0.00, G=0.00, T=0.00
Other Sub 2614 C=0.6274 A=0.3726, G=0.0000, T=0.0000


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
gnomAD - Genomes Global Study-wide 45132 C=0.95733 A=0.04267
gnomAD - Genomes European Sub 26448 C=0.95988 A=0.04012
gnomAD - Genomes African Sub 13384 C=0.95846 A=0.04154
gnomAD - Genomes American Sub 3090 C=0.9294 A=0.0706
gnomAD - Genomes Ashkenazi Jewish Sub 914 C=0.957 A=0.043
gnomAD - Genomes East Asian Sub 688 C=0.942 A=0.058
gnomAD - Genomes Other Sub 608 C=0.980 A=0.020
Allele Frequency Aggregator Total Global 21586 C=0.71292 A=0.28708, G=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 15800 C=0.69361 A=0.30639, G=0.00000, T=0.00000
Allele Frequency Aggregator African Sub 2676 C=0.8700 A=0.1300, G=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 2614 C=0.6274 A=0.3726, G=0.0000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 234 C=1.000 A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=0.696 A=0.304, G=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 92 C=1.00 A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator South Asian Sub 58 C=1.00 A=0.00, G=0.00, T=0.00
14KJPN JAPANESE Study-wide 17428 C=0.70392 A=0.29608
8.3KJPN JAPANESE Study-wide 16760 C=0.39660 A=0.60340
1000Genomes_30x Global Study-wide 6404 C=0.8908 A=0.1092
1000Genomes_30x African Sub 1786 C=0.9138 A=0.0862
1000Genomes_30x Europe Sub 1266 C=0.9100 A=0.0900
1000Genomes_30x South Asian Sub 1202 C=0.8627 A=0.1373
1000Genomes_30x East Asian Sub 1170 C=0.9308 A=0.0692
1000Genomes_30x American Sub 980 C=0.811 A=0.189
1000Genomes Global Study-wide 5008 C=0.5415 A=0.4585
1000Genomes African Sub 1322 C=0.5991 A=0.4009
1000Genomes East Asian Sub 1008 C=0.4980 A=0.5020
1000Genomes Europe Sub 1006 C=0.5328 A=0.4672
1000Genomes South Asian Sub 978 C=0.612 A=0.388
1000Genomes American Sub 694 C=0.408 A=0.592
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.4686 A=0.5314, G=0.0000
Korean Genome Project KOREAN Study-wide 862 C=0.371 A=0.629
A Vietnamese Genetic Variation Database Global Study-wide 611 C=0.563 A=0.437
Northern Sweden ACPOP Study-wide 600 C=0.467 A=0.533
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.893 A=0.107
SGDP_PRJ Global Study-wide 406 C=0.291 A=0.709
Qatari Global Study-wide 216 C=0.481 A=0.519
Siberian Global Study-wide 24 C=0.33 A=0.67
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 6 NC_000006.12:g.29943377C>A
GRCh38.p14 chr 6 NC_000006.12:g.29943377C>G
GRCh38.p14 chr 6 NC_000006.12:g.29943377C>T
GRCh37.p13 chr 6 NC_000006.11:g.29911154C>A
GRCh37.p13 chr 6 NC_000006.11:g.29911154C>G
GRCh37.p13 chr 6 NC_000006.11:g.29911154C>T
HLA-A RefSeqGene NG_029217.2:g.5912C>A
HLA-A RefSeqGene NG_029217.2:g.5912C>G
HLA-A RefSeqGene NG_029217.2:g.5912C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.1422799C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.1422799C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.1422799C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.1422905C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.1422905C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.1422905C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.1201124C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.1201124C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.1201124C>T
GRCh37.p13 chr 6 fix patch HG1322_PATCH NW_003871063.1:g.177301C>A
GRCh37.p13 chr 6 fix patch HG1322_PATCH NW_003871063.1:g.177301C>G
GRCh37.p13 chr 6 fix patch HG1322_PATCH NW_003871063.1:g.177301C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.1198336C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.1198336C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.1198336C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.1203932C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.1203932C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.1203932C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.1198930A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.1198930A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.1198930A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.1204515A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.1204515A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.1204515A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.1241190C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.1241190C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.1241190C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.1240488C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.1240488C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.1240488C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.1197918C>A
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.1197918C>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.1197918C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.1203538C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.1203538C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.1203538C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.1287457A>C
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.1287457A>G
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.1287457A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.1293042A>C
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.1293042A>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.1293042A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.1151040C>A
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.1151040C>G
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.1151040C>T
Gene: HLA-A, major histocompatibility complex, class I, A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HLA-A transcript variant 1 (A*03:01:01:01) NM_002116.8:c.453C>A N [AAC] > K [AAA] Coding Sequence Variant
HLA class I histocompatibility antigen, A alpha chain isoform A*03:01:01:01 precursor NP_002107.3:p.Asn151Lys N (Asn) > K (Lys) Missense Variant
HLA-A transcript variant 1 (A*03:01:01:01) NM_002116.8:c.453C>G N [AAC] > K [AAG] Coding Sequence Variant
HLA class I histocompatibility antigen, A alpha chain isoform A*03:01:01:01 precursor NP_002107.3:p.Asn151Lys N (Asn) > K (Lys) Missense Variant
HLA-A transcript variant 1 (A*03:01:01:01) NM_002116.8:c.453C>T N [AAC] > N [AAT] Coding Sequence Variant
HLA class I histocompatibility antigen, A alpha chain isoform A*03:01:01:01 precursor NP_002107.3:p.Asn151= N (Asn) > N (Asn) Synonymous Variant
Gene: LOC124901298, uncharacterized LOC124901298 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124901298 transcript variant X1 XR_007059541.1:n. N/A Intron 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 C= A G T
GRCh38.p14 chr 6 NC_000006.12:g.29943377= NC_000006.12:g.29943377C>A NC_000006.12:g.29943377C>G NC_000006.12:g.29943377C>T
GRCh37.p13 chr 6 NC_000006.11:g.29911154= NC_000006.11:g.29911154C>A NC_000006.11:g.29911154C>G NC_000006.11:g.29911154C>T
HLA-A RefSeqGene NG_029217.2:g.5912= NG_029217.2:g.5912C>A NG_029217.2:g.5912C>G NG_029217.2:g.5912C>T
HLA-A transcript variant 1 (A*03:01:01:01) NM_002116.8:c.453= NM_002116.8:c.453C>A NM_002116.8:c.453C>G NM_002116.8:c.453C>T
HLA-A transcript variant 1 (A*03:01:0:01) NM_002116.7:c.453= NM_002116.7:c.453C>A NM_002116.7:c.453C>G NM_002116.7:c.453C>T
HLA-A transcript variant 2 (A*01:01:01:01) NM_001242758.1:c.709-880A>C NM_001242758.1:c.709-880= NM_001242758.1:c.709-880A>G NM_001242758.1:c.709-880A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.3:g.1422799= NT_113891.3:g.1422799C>A NT_113891.3:g.1422799C>G NT_113891.3:g.1422799C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1 NT_113891.2:g.1422905= NT_113891.2:g.1422905C>A NT_113891.2:g.1422905C>G NT_113891.2:g.1422905C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.2:g.1201124= NT_167244.2:g.1201124C>A NT_167244.2:g.1201124C>G NT_167244.2:g.1201124C>T
GRCh37.p13 chr 6 fix patch HG1322_PATCH NW_003871063.1:g.177301= NW_003871063.1:g.177301C>A NW_003871063.1:g.177301C>G NW_003871063.1:g.177301C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.2:g.1198336= NT_167248.2:g.1198336C>A NT_167248.2:g.1198336C>G NT_167248.2:g.1198336C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1 NT_167248.1:g.1203932= NT_167248.1:g.1203932C>A NT_167248.1:g.1203932C>G NT_167248.1:g.1203932C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.2:g.1198930A>C NT_167245.2:g.1198930= NT_167245.2:g.1198930A>G NT_167245.2:g.1198930A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1 NT_167245.1:g.1204515A>C NT_167245.1:g.1204515= NT_167245.1:g.1204515A>G NT_167245.1:g.1204515A>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.2:g.1241190= NT_167249.2:g.1241190C>A NT_167249.2:g.1241190C>G NT_167249.2:g.1241190C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1 NT_167249.1:g.1240488= NT_167249.1:g.1240488C>A NT_167249.1:g.1240488C>G NT_167249.1:g.1240488C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.2:g.1197918= NT_167246.2:g.1197918C>A NT_167246.2:g.1197918C>G NT_167246.2:g.1197918C>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1 NT_167246.1:g.1203538= NT_167246.1:g.1203538C>A NT_167246.1:g.1203538C>G NT_167246.1:g.1203538C>T
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.2:g.1287457A>C NT_167247.2:g.1287457= NT_167247.2:g.1287457A>G NT_167247.2:g.1287457A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1 NT_167247.1:g.1293042A>C NT_167247.1:g.1293042= NT_167247.1:g.1293042A>G NT_167247.1:g.1293042A>T
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1 NT_167244.1:g.1151040= NT_167244.1:g.1151040C>A NT_167244.1:g.1151040C>G NT_167244.1:g.1151040C>T
HLA-A29.1 transcript NM_001080840.1:c.453= NM_001080840.1:c.453C>A NM_001080840.1:c.453C>G NM_001080840.1:c.453C>T
HLA-A transcript variant X1 XM_041680768.2:c.444A>C XM_041680768.2:c.444= XM_041680768.2:c.444A>G XM_041680768.2:c.444A>T
HLA-A transcript variant X2 XM_041680768.1:c.444A>C XM_041680768.1:c.444= XM_041680768.1:c.444A>G XM_041680768.1:c.444A>T
HLA-A transcript variant X2 XM_041680767.1:c.444A>C XM_041680767.1:c.444= XM_041680767.1:c.444A>G XM_041680767.1:c.444A>T
HLA class I histocompatibility antigen, A alpha chain isoform A*03:01:01:01 precursor NP_002107.3:p.Asn151= NP_002107.3:p.Asn151Lys NP_002107.3:p.Asn151Lys NP_002107.3:p.Asn151=
HLA class I histocompatibility antigen, A alpha chain isoform A*01:01:01:01 precursor NP_001229687.1:p.Asn151= NP_001229687.1:p.Asn151Lys NP_001229687.1:p.Asn151Lys NP_001229687.1:p.Asn151=
HLA class I histocompatibility antigen, A alpha chain isoform X1 XP_041536701.1:p.Lys148Asn XP_041536701.1:p.Lys148= XP_041536701.1:p.Lys148= XP_041536701.1:p.Lys148Asn
HLA class I histocompatibility antigen, A alpha chain isoform X2 XP_041536702.1:p.Lys148Asn XP_041536702.1:p.Lys148= XP_041536702.1:p.Lys148= XP_041536702.1:p.Lys148Asn
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#.

68 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1542070 Oct 05, 2000 (86)
2 LEE ss4399116 May 29, 2002 (106)
3 SSAHASNP ss22491259 Apr 05, 2004 (121)
4 SI_MHC_SNP ss35524027 May 24, 2005 (126)
5 HUMANGENOME_JCVI ss98376784 Feb 05, 2009 (130)
6 ENSEMBL ss133674682 Dec 01, 2009 (136)
7 GMI ss156702336 Dec 01, 2009 (137)
8 SEATTLESEQ ss159711683 Dec 01, 2009 (137)
9 COMPLETE_GENOMICS ss162171090 Jul 04, 2010 (137)
10 COMPLETE_GENOMICS ss163312062 Jul 04, 2010 (137)
11 BCM-HGSC-SUB ss207804016 Jul 04, 2010 (137)
12 1000GENOMES ss217320282 Jul 14, 2010 (137)
13 1000GENOMES ss217395988 Jul 14, 2010 (137)
14 1000GENOMES ss217397493 Jul 14, 2010 (137)
15 1000GENOMES ss217405435 Jul 14, 2010 (137)
16 1000GENOMES ss217416675 Jul 14, 2010 (137)
17 1000GENOMES ss217420062 Jul 14, 2010 (137)
18 1000GENOMES ss233384641 Jul 14, 2010 (137)
19 GMI ss278711728 May 04, 2012 (137)
20 PJP ss293819537 May 09, 2011 (137)
21 CLINSEQ_SNP ss491883560 May 04, 2012 (137)
22 DBMHC ss539215037 Oct 04, 2012 (137)
23 DBMHC ss539215038 Oct 04, 2012 (137)
24 DBMHC ss539215039 Oct 04, 2012 (137)
25 SSMP ss653015486 Apr 25, 2013 (138)
26 EVA-GONL ss982740501 Aug 21, 2014 (142)
27 1000GENOMES ss1319504477 Aug 21, 2014 (142)
28 EVA_EXAC ss1688212063 Apr 01, 2015 (144)
29 EVA_EXAC ss1688212064 Apr 01, 2015 (144)
30 EVA_MGP ss1711118195 Apr 01, 2015 (144)
31 WEILL_CORNELL_DGM ss1925992552 Feb 12, 2016 (147)
32 JJLAB ss2023623395 Sep 14, 2016 (149)
33 USC_VALOUEV ss2151788423 Nov 08, 2017 (151)
34 GRF ss2707380569 Nov 08, 2017 (151)
35 GNOMAD ss2735619380 Nov 08, 2017 (151)
36 GNOMAD ss2747572046 Nov 08, 2017 (151)
37 SWEGEN ss2998758224 Nov 08, 2017 (151)
38 CSHL ss3346901500 Nov 08, 2017 (151)
39 OMUKHERJEE_ADBS ss3646332907 Oct 12, 2018 (152)
40 URBANLAB ss3648303447 Oct 12, 2018 (152)
41 ACPOP ss3733335656 Jul 13, 2019 (153)
42 EVA ss3764794863 Jul 13, 2019 (153)
43 KHV_HUMAN_GENOMES ss3807950689 Jul 13, 2019 (153)
44 EVA ss3829814037 Apr 26, 2020 (154)
45 EVA ss3838384823 Apr 26, 2020 (154)
46 EVA ss3843826092 Apr 26, 2020 (154)
47 SGDP_PRJ ss3864212108 Apr 26, 2020 (154)
48 KRGDB ss3910987115 Apr 26, 2020 (154)
49 KOGIC ss3958752748 Apr 26, 2020 (154)
50 FSA-LAB ss3984332807 Apr 26, 2021 (155)
51 EVA ss3986034107 Apr 26, 2021 (155)
52 EVA ss3986340125 Apr 26, 2021 (155)
53 TOMMO_GENOMICS ss5176770957 Apr 26, 2021 (155)
54 EVA ss5508410314 Oct 13, 2022 (156)
55 1000G_HIGH_COVERAGE ss5553525664 Oct 13, 2022 (156)
56 EVA ss5623935151 Oct 13, 2022 (156)
57 SANFORD_IMAGENETICS ss5640050556 Oct 13, 2022 (156)
58 TOMMO_GENOMICS ss5714608322 Oct 13, 2022 (156)
59 EVA ss5799402310 Oct 13, 2022 (156)
60 EVA ss5800055250 Oct 13, 2022 (156)
61 EVA ss5800128190 Oct 13, 2022 (156)
62 YY_MCH ss5807281752 Oct 13, 2022 (156)
63 EVA ss5841995869 Oct 13, 2022 (156)
64 EVA ss5848649057 Oct 13, 2022 (156)
65 EVA ss5883192492 Oct 13, 2022 (156)
66 EVA ss5935800678 Oct 13, 2022 (156)
67 EVA ss5936530150 Oct 13, 2022 (156)
68 EVA ss5968556006 Oct 13, 2022 (156)
69 1000Genomes NC_000006.11 - 29911154 Oct 12, 2018 (152)
70 1000Genomes_30x NC_000006.12 - 29943377 Oct 13, 2022 (156)
71 ExAC

Submission ignored due to conflicting rows:
Row 8235601 (NC_000006.11:29911153:C:C 61374/111204, NC_000006.11:29911153:C:A 49830/111204)
Row 8235602 (NC_000006.11:29911153:C:C 111151/111204, NC_000006.11:29911153:C:G 53/111204)

- Oct 12, 2018 (152)
72 ExAC

Submission ignored due to conflicting rows:
Row 8235601 (NC_000006.11:29911153:C:C 61374/111204, NC_000006.11:29911153:C:A 49830/111204)
Row 8235602 (NC_000006.11:29911153:C:C 111151/111204, NC_000006.11:29911153:C:G 53/111204)

- Oct 12, 2018 (152)
73 gnomAD - Genomes NC_000006.12 - 29943377 Apr 26, 2021 (155)
74 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4762052 (NC_000006.11:29911153:C:C 118936/217832, NC_000006.11:29911153:C:A 98896/217832)
Row 4762053 (NC_000006.11:29911153:C:C 217826/217832, NC_000006.11:29911153:C:G 6/217832)

- Jul 13, 2019 (153)
75 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 4762052 (NC_000006.11:29911153:C:C 118936/217832, NC_000006.11:29911153:C:A 98896/217832)
Row 4762053 (NC_000006.11:29911153:C:C 217826/217832, NC_000006.11:29911153:C:G 6/217832)

- Jul 13, 2019 (153)
76 KOREAN population from KRGDB NC_000006.11 - 29911154 Apr 26, 2020 (154)
77 Korean Genome Project NC_000006.12 - 29943377 Apr 26, 2020 (154)
78 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 29911154 Apr 26, 2020 (154)
79 Northern Sweden NC_000006.11 - 29911154 Jul 13, 2019 (153)
80 Qatari NC_000006.11 - 29911154 Apr 26, 2020 (154)
81 SGDP_PRJ NC_000006.11 - 29911154 Apr 26, 2020 (154)
82 Siberian NC_000006.11 - 29911154 Apr 26, 2020 (154)
83 8.3KJPN NC_000006.11 - 29911154 Apr 26, 2021 (155)
84 14KJPN NC_000006.12 - 29943377 Oct 13, 2022 (156)
85 A Vietnamese Genetic Variation Database NC_000006.11 - 29911154 Jul 13, 2019 (153)
86 ALFA NC_000006.12 - 29943377 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).

Associated ID History Updated (Build)
rs3173416 Jul 03, 2002 (106)
rs16896617 Dec 02, 2004 (124)
rs28749153 Mar 10, 2006 (126)
rs41542815 Sep 21, 2007 (128)
rs75228333 Feb 18, 2014 (136)
rs75668521 May 04, 2012 (137)
rs76473713 May 04, 2012 (137)
rs112130472 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss162171090, ss163312062, ss207804016, ss217320282, ss217395988, ss217397493, ss217405435, ss217416675, ss217420062, ss278711728, ss293819537, ss491883560 NC_000006.10:30019132:C:A NC_000006.12:29943376:C:A (self)
31269591, 18164509, 233955, 6620521, 8034482, 16229088, 4304777, 34740264, 3861607, ss233384641, ss653015486, ss982740501, ss1319504477, ss1688212063, ss1711118195, ss1925992552, ss2023623395, ss2151788423, ss2707380569, ss2735619380, ss2747572046, ss2998758224, ss3346901500, ss3646332907, ss3733335656, ss3764794863, ss3829814037, ss3838384823, ss3864212108, ss3910987115, ss3984332807, ss3986034107, ss3986340125, ss5176770957, ss5508410314, ss5623935151, ss5640050556, ss5799402310, ss5800055250, ss5800128190, ss5841995869, ss5848649057, ss5936530150, ss5968556006 NC_000006.11:29911153:C:A NC_000006.12:29943376:C:A (self)
41051599, 220907901, 15130749, 48445426, 4866381977, ss539215037, ss3648303447, ss3807950689, ss3843826092, ss3958752748, ss5553525664, ss5714608322, ss5807281752, ss5883192492 NC_000006.12:29943376:C:A NC_000006.12:29943376:C:A (self)
ss22491259 NT_007592.13:20767265:C:A NC_000006.12:29943376:C:A (self)
ss1542070, ss4399116, ss35524027, ss98376784, ss156702336, ss159711683 NT_007592.15:29851153:C:A NC_000006.12:29943376:C:A (self)
ss133674682 NT_167248.1:1203931:C:A NC_000006.12:29943376:C:A (self)
18164509, ss1688212064, ss2735619380, ss3910987115, ss5935800678 NC_000006.11:29911153:C:G NC_000006.12:29943376:C:G (self)
4866381977, ss539215038 NC_000006.12:29943376:C:G NC_000006.12:29943376:C:G (self)
4866381977, ss539215039 NC_000006.12:29943376:C:T NC_000006.12:29943376:C:T (self)
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 rs1059509

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.post761+d5e8e07