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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.

rs318426

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:2948731 (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
C=0.153648 (40669/264690, TOPMED)
C=0.137370 (34436/250680, GnomAD_exome)
C=0.154577 (21664/140150, GnomAD) (+ 22 more)
C=0.138745 (16835/121338, ExAC)
C=0.15907 (14418/90642, ALFA)
C=0.05793 (1637/28258, 14KJPN)
C=0.05453 (914/16760, 8.3KJPN)
C=0.16269 (2116/13006, GO-ESP)
C=0.1184 (758/6404, 1000G_30x)
C=0.1158 (580/5008, 1000G)
C=0.1614 (723/4480, Estonian)
C=0.1689 (651/3854, ALSPAC)
C=0.1758 (652/3708, TWINSUK)
C=0.0365 (107/2930, KOREAN)
C=0.1060 (221/2084, HGDP_Stanford)
C=0.1066 (191/1792, HapMap)
C=0.177 (177/998, GoNL)
C=0.013 (8/616, Vietnamese)
C=0.175 (105/600, NorthernSweden)
C=0.087 (48/550, SGDP_PRJ)
C=0.150 (80/534, MGP)
C=0.102 (22/216, Qatari)
C=0.10 (8/80, Ancient Sardinia)
C=0.04 (2/54, Siberian)
C=0.30 (12/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SERPINB6 : 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 90642 C=0.15907 T=0.84093 0.026588 0.708457 0.264954 3
European Sub 71204 C=0.16746 T=0.83254 0.028931 0.694006 0.277063 1
African Sub 7964 C=0.1467 T=0.8533 0.022351 0.729031 0.248619 0
African Others Sub 272 C=0.147 T=0.853 0.014706 0.720588 0.264706 0
African American Sub 7692 C=0.1466 T=0.8534 0.022621 0.729329 0.24805 0
Asian Sub 260 C=0.035 T=0.965 0.0 0.930769 0.069231 0
East Asian Sub 188 C=0.032 T=0.968 0.0 0.93617 0.06383 0
Other Asian Sub 72 C=0.04 T=0.96 0.0 0.916667 0.083333 0
Latin American 1 Sub 268 C=0.149 T=0.851 0.014925 0.716418 0.268657 0
Latin American 2 Sub 1316 C=0.1474 T=0.8526 0.021277 0.726444 0.25228 0
South Asian Sub 4974 C=0.0881 T=0.9119 0.00764 0.831524 0.160836 0
Other Sub 4656 C=0.1385 T=0.8615 0.021907 0.744845 0.233247 1


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 C=0.153648 T=0.846352
gnomAD - Exomes Global Study-wide 250680 C=0.137370 T=0.862630
gnomAD - Exomes European Sub 134746 C=0.166565 T=0.833435
gnomAD - Exomes Asian Sub 49006 C=0.06328 T=0.93672
gnomAD - Exomes American Sub 34590 C=0.13093 T=0.86907
gnomAD - Exomes African Sub 16146 C=0.14821 T=0.85179
gnomAD - Exomes Ashkenazi Jewish Sub 10074 C=0.11177 T=0.88823
gnomAD - Exomes Other Sub 6118 C=0.1378 T=0.8622
gnomAD - Genomes Global Study-wide 140150 C=0.154577 T=0.845423
gnomAD - Genomes European Sub 75896 C=0.16801 T=0.83199
gnomAD - Genomes African Sub 42006 C=0.14562 T=0.85438
gnomAD - Genomes American Sub 13648 C=0.14618 T=0.85382
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.1095 T=0.8905
gnomAD - Genomes East Asian Sub 3128 C=0.0272 T=0.9728
gnomAD - Genomes Other Sub 2148 C=0.1639 T=0.8361
ExAC Global Study-wide 121338 C=0.138745 T=0.861255
ExAC Europe Sub 73344 C=0.16359 T=0.83641
ExAC Asian Sub 25164 C=0.06474 T=0.93526
ExAC American Sub 11574 C=0.13375 T=0.86625
ExAC African Sub 10348 C=0.14853 T=0.85147
ExAC Other Sub 908 C=0.135 T=0.865
Allele Frequency Aggregator Total Global 90642 C=0.15907 T=0.84093
Allele Frequency Aggregator European Sub 71204 C=0.16746 T=0.83254
Allele Frequency Aggregator African Sub 7964 C=0.1467 T=0.8533
Allele Frequency Aggregator South Asian Sub 4974 C=0.0881 T=0.9119
Allele Frequency Aggregator Other Sub 4656 C=0.1385 T=0.8615
Allele Frequency Aggregator Latin American 2 Sub 1316 C=0.1474 T=0.8526
Allele Frequency Aggregator Latin American 1 Sub 268 C=0.149 T=0.851
Allele Frequency Aggregator Asian Sub 260 C=0.035 T=0.965
14KJPN JAPANESE Study-wide 28258 C=0.05793 T=0.94207
8.3KJPN JAPANESE Study-wide 16760 C=0.05453 T=0.94547
GO Exome Sequencing Project Global Study-wide 13006 C=0.16269 T=0.83731
GO Exome Sequencing Project European American Sub 8600 C=0.1705 T=0.8295
GO Exome Sequencing Project African American Sub 4406 C=0.1475 T=0.8525
1000Genomes_30x Global Study-wide 6404 C=0.1184 T=0.8816
1000Genomes_30x African Sub 1786 C=0.1702 T=0.8298
1000Genomes_30x Europe Sub 1266 C=0.1509 T=0.8491
1000Genomes_30x South Asian Sub 1202 C=0.0674 T=0.9326
1000Genomes_30x East Asian Sub 1170 C=0.0316 T=0.9684
1000Genomes_30x American Sub 980 C=0.148 T=0.852
1000Genomes Global Study-wide 5008 C=0.1158 T=0.8842
1000Genomes African Sub 1322 C=0.1657 T=0.8343
1000Genomes East Asian Sub 1008 C=0.0337 T=0.9663
1000Genomes Europe Sub 1006 C=0.1531 T=0.8469
1000Genomes South Asian Sub 978 C=0.069 T=0.931
1000Genomes American Sub 694 C=0.153 T=0.847
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.1614 T=0.8386
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.1689 T=0.8311
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.1758 T=0.8242
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.0365 A=0.0000, G=0.0000, T=0.9635
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.1060 T=0.8940
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.047 T=0.953
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.097 T=0.903
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.117 T=0.883
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.122 T=0.878
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.186 T=0.814
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.093 T=0.907
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.19 T=0.81
HapMap Global Study-wide 1792 C=0.1066 T=0.8934
HapMap African Sub 692 C=0.145 T=0.855
HapMap American Sub 670 C=0.082 T=0.918
HapMap Asian Sub 254 C=0.047 T=0.953
HapMap Europe Sub 176 C=0.136 T=0.864
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.177 T=0.823
A Vietnamese Genetic Variation Database Global Study-wide 616 C=0.013 T=0.987
Northern Sweden ACPOP Study-wide 600 C=0.175 T=0.825
SGDP_PRJ Global Study-wide 550 C=0.087 T=0.913
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.150 T=0.850
Qatari Global Study-wide 216 C=0.102 T=0.898
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 C=0.10 T=0.90
Siberian Global Study-wide 54 C=0.04 T=0.96
The Danish reference pan genome Danish Study-wide 40 C=0.30 T=0.70
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.2948731C>A
GRCh38.p14 chr 6 NC_000006.12:g.2948731C>G
GRCh38.p14 chr 6 NC_000006.12:g.2948731C>T
GRCh37.p13 chr 6 NC_000006.11:g.2948965C>A
GRCh37.p13 chr 6 NC_000006.11:g.2948965C>G
GRCh37.p13 chr 6 NC_000006.11:g.2948965C>T
SERPINB6 RefSeqGene NG_027692.1:g.28435G>T
SERPINB6 RefSeqGene NG_027692.1:g.28435G>C
SERPINB6 RefSeqGene NG_027692.1:g.28435G>A
Gene: SERPINB6, serpin family B member 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SERPINB6 transcript variant 2 NM_001195291.3:c.742-32G>T N/A Intron Variant
SERPINB6 transcript variant 3 NM_001271822.2:c.772-32G>T N/A Intron Variant
SERPINB6 transcript variant 4 NM_001271823.2:c.787-32G>T N/A Intron Variant
SERPINB6 transcript variant 5 NM_001271824.2:c.730-32G>T N/A Intron Variant
SERPINB6 transcript variant 6 NM_001271825.2:c.730-32G>T N/A Intron Variant
SERPINB6 transcript variant 7 NM_001297699.2:c.730-32G>T N/A Intron Variant
SERPINB6 transcript variant 8 NM_001297700.2:c.730-32G>T N/A Intron Variant
SERPINB6 transcript variant 9 NM_001374515.1:c.742-32G>T N/A Intron Variant
SERPINB6 transcript variant 10 NM_001374516.1:c.730-32G>T N/A Intron Variant
SERPINB6 transcript variant 11 NM_001374517.1:c.598-32G>T N/A Intron Variant
SERPINB6 transcript variant 1 NM_004568.6:c.730-32G>T N/A Intron Variant
SERPINB6 transcript variant 12 NR_164657.1:n. N/A Intron Variant
SERPINB6 transcript variant X2 XM_011514672.2:c.964-32G>T N/A Intron Variant
SERPINB6 transcript variant X10 XM_017010941.2:c.598-32G>T N/A Intron Variant
SERPINB6 transcript variant X13 XM_024446465.2:c.598-32G>T N/A Intron Variant
SERPINB6 transcript variant X1 XM_047418883.1:c.964-32G>T N/A Intron Variant
SERPINB6 transcript variant X3 XM_047418884.1:c.964-32G>T N/A Intron Variant
SERPINB6 transcript variant X4 XM_047418885.1:c.964-32G>T N/A Intron Variant
SERPINB6 transcript variant X5 XM_047418887.1:c.964-32G>T N/A Intron Variant
SERPINB6 transcript variant X6 XM_047418888.1:c.964-32G>T N/A Intron Variant
SERPINB6 transcript variant X7 XM_047418889.1:c.742-32G>T N/A Intron Variant
SERPINB6 transcript variant X11 XM_047418890.1:c.742-32G>T N/A Intron Variant
SERPINB6 transcript variant X12 XM_047418891.1:c.730-32G>T N/A Intron Variant
SERPINB6 transcript variant X8 XM_047418892.1:c.730-32G>T N/A Intron Variant
SERPINB6 transcript variant X9 XM_047418893.1:c.598-32G>T 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.

Allele: T (allele ID: 1169167 )
ClinVar Accession Disease Names Clinical Significance
RCV001537540.2 not provided Benign
RCV001807419.2 Autosomal recessive nonsyndromic hearing loss 91 Benign
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.2948731= NC_000006.12:g.2948731C>A NC_000006.12:g.2948731C>G NC_000006.12:g.2948731C>T
GRCh37.p13 chr 6 NC_000006.11:g.2948965= NC_000006.11:g.2948965C>A NC_000006.11:g.2948965C>G NC_000006.11:g.2948965C>T
SERPINB6 RefSeqGene NG_027692.1:g.28435= NG_027692.1:g.28435G>T NG_027692.1:g.28435G>C NG_027692.1:g.28435G>A
SERPINB6 transcript variant 2 NM_001195291.2:c.742-32= NM_001195291.2:c.742-32G>T NM_001195291.2:c.742-32G>C NM_001195291.2:c.742-32G>A
SERPINB6 transcript variant 2 NM_001195291.3:c.742-32= NM_001195291.3:c.742-32G>T NM_001195291.3:c.742-32G>C NM_001195291.3:c.742-32G>A
SERPINB6 transcript variant 3 NM_001271822.1:c.772-32= NM_001271822.1:c.772-32G>T NM_001271822.1:c.772-32G>C NM_001271822.1:c.772-32G>A
SERPINB6 transcript variant 3 NM_001271822.2:c.772-32= NM_001271822.2:c.772-32G>T NM_001271822.2:c.772-32G>C NM_001271822.2:c.772-32G>A
SERPINB6 transcript variant 4 NM_001271823.1:c.787-32= NM_001271823.1:c.787-32G>T NM_001271823.1:c.787-32G>C NM_001271823.1:c.787-32G>A
SERPINB6 transcript variant 4 NM_001271823.2:c.787-32= NM_001271823.2:c.787-32G>T NM_001271823.2:c.787-32G>C NM_001271823.2:c.787-32G>A
SERPINB6 transcript variant 5 NM_001271824.1:c.730-32= NM_001271824.1:c.730-32G>T NM_001271824.1:c.730-32G>C NM_001271824.1:c.730-32G>A
SERPINB6 transcript variant 5 NM_001271824.2:c.730-32= NM_001271824.2:c.730-32G>T NM_001271824.2:c.730-32G>C NM_001271824.2:c.730-32G>A
SERPINB6 transcript variant 6 NM_001271825.1:c.730-32= NM_001271825.1:c.730-32G>T NM_001271825.1:c.730-32G>C NM_001271825.1:c.730-32G>A
SERPINB6 transcript variant 6 NM_001271825.2:c.730-32= NM_001271825.2:c.730-32G>T NM_001271825.2:c.730-32G>C NM_001271825.2:c.730-32G>A
SERPINB6 transcript variant 7 NM_001297699.2:c.730-32= NM_001297699.2:c.730-32G>T NM_001297699.2:c.730-32G>C NM_001297699.2:c.730-32G>A
SERPINB6 transcript variant 8 NM_001297700.2:c.730-32= NM_001297700.2:c.730-32G>T NM_001297700.2:c.730-32G>C NM_001297700.2:c.730-32G>A
SERPINB6 transcript variant 9 NM_001374515.1:c.742-32= NM_001374515.1:c.742-32G>T NM_001374515.1:c.742-32G>C NM_001374515.1:c.742-32G>A
SERPINB6 transcript variant 10 NM_001374516.1:c.730-32= NM_001374516.1:c.730-32G>T NM_001374516.1:c.730-32G>C NM_001374516.1:c.730-32G>A
SERPINB6 transcript variant 11 NM_001374517.1:c.598-32= NM_001374517.1:c.598-32G>T NM_001374517.1:c.598-32G>C NM_001374517.1:c.598-32G>A
SERPINB6 transcript variant 1 NM_004568.5:c.730-32= NM_004568.5:c.730-32G>T NM_004568.5:c.730-32G>C NM_004568.5:c.730-32G>A
SERPINB6 transcript variant 1 NM_004568.6:c.730-32= NM_004568.6:c.730-32G>T NM_004568.6:c.730-32G>C NM_004568.6:c.730-32G>A
SERPINB6 transcript variant X1 XM_005249181.1:c.829-32= XM_005249181.1:c.829-32G>T XM_005249181.1:c.829-32G>C XM_005249181.1:c.829-32G>A
SERPINB6 transcript variant X2 XM_005249182.1:c.730-32= XM_005249182.1:c.730-32G>T XM_005249182.1:c.730-32G>C XM_005249182.1:c.730-32G>A
SERPINB6 transcript variant X3 XM_005249183.1:c.463-32= XM_005249183.1:c.463-32G>T XM_005249183.1:c.463-32G>C XM_005249183.1:c.463-32G>A
SERPINB6 transcript variant X2 XM_011514672.2:c.964-32= XM_011514672.2:c.964-32G>T XM_011514672.2:c.964-32G>C XM_011514672.2:c.964-32G>A
SERPINB6 transcript variant X10 XM_017010941.2:c.598-32= XM_017010941.2:c.598-32G>T XM_017010941.2:c.598-32G>C XM_017010941.2:c.598-32G>A
SERPINB6 transcript variant X13 XM_024446465.2:c.598-32= XM_024446465.2:c.598-32G>T XM_024446465.2:c.598-32G>C XM_024446465.2:c.598-32G>A
SERPINB6 transcript variant X1 XM_047418883.1:c.964-32= XM_047418883.1:c.964-32G>T XM_047418883.1:c.964-32G>C XM_047418883.1:c.964-32G>A
SERPINB6 transcript variant X3 XM_047418884.1:c.964-32= XM_047418884.1:c.964-32G>T XM_047418884.1:c.964-32G>C XM_047418884.1:c.964-32G>A
SERPINB6 transcript variant X4 XM_047418885.1:c.964-32= XM_047418885.1:c.964-32G>T XM_047418885.1:c.964-32G>C XM_047418885.1:c.964-32G>A
SERPINB6 transcript variant X5 XM_047418887.1:c.964-32= XM_047418887.1:c.964-32G>T XM_047418887.1:c.964-32G>C XM_047418887.1:c.964-32G>A
SERPINB6 transcript variant X6 XM_047418888.1:c.964-32= XM_047418888.1:c.964-32G>T XM_047418888.1:c.964-32G>C XM_047418888.1:c.964-32G>A
SERPINB6 transcript variant X7 XM_047418889.1:c.742-32= XM_047418889.1:c.742-32G>T XM_047418889.1:c.742-32G>C XM_047418889.1:c.742-32G>A
SERPINB6 transcript variant X11 XM_047418890.1:c.742-32= XM_047418890.1:c.742-32G>T XM_047418890.1:c.742-32G>C XM_047418890.1:c.742-32G>A
SERPINB6 transcript variant X12 XM_047418891.1:c.730-32= XM_047418891.1:c.730-32G>T XM_047418891.1:c.730-32G>C XM_047418891.1:c.730-32G>A
SERPINB6 transcript variant X8 XM_047418892.1:c.730-32= XM_047418892.1:c.730-32G>T XM_047418892.1:c.730-32G>C XM_047418892.1:c.730-32G>A
SERPINB6 transcript variant X9 XM_047418893.1:c.598-32= XM_047418893.1:c.598-32G>T XM_047418893.1:c.598-32G>C XM_047418893.1:c.598-32G>A
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#.

133 SubSNP, 25 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss407732 Jul 12, 2000 (79)
2 KWOK ss1171587 Oct 04, 2000 (86)
3 KWOK ss1913156 Oct 18, 2000 (87)
4 SC_JCM ss3891179 Sep 28, 2001 (100)
5 CSHL-HAPMAP ss17138479 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19686062 Feb 27, 2004 (120)
7 SSAHASNP ss22452662 Apr 05, 2004 (121)
8 ABI ss44766068 Mar 13, 2006 (126)
9 ILLUMINA ss66616024 Nov 30, 2006 (127)
10 ILLUMINA ss67292461 Nov 30, 2006 (127)
11 ILLUMINA ss67696211 Nov 30, 2006 (127)
12 ILLUMINA ss70771050 May 25, 2008 (130)
13 ILLUMINA ss71346342 May 17, 2007 (127)
14 ILLUMINA ss75451339 Dec 06, 2007 (129)
15 ILLUMINA ss79159796 Dec 15, 2007 (130)
16 KRIBB_YJKIM ss83425190 Dec 15, 2007 (130)
17 HUMANGENOME_JCVI ss98361166 Feb 05, 2009 (130)
18 BGI ss105975388 Feb 05, 2009 (130)
19 1000GENOMES ss109699822 Jan 24, 2009 (130)
20 1000GENOMES ss113803924 Jan 25, 2009 (130)
21 ILLUMINA-UK ss116272605 Feb 14, 2009 (130)
22 ILLUMINA ss122178883 Dec 01, 2009 (131)
23 ILLUMINA ss154256481 Dec 01, 2009 (131)
24 GMI ss156453415 Dec 01, 2009 (131)
25 ILLUMINA ss159433047 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss161966031 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss163063040 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss166030356 Jul 04, 2010 (132)
29 ILLUMINA ss171558421 Jul 04, 2010 (132)
30 ILLUMINA ss173572815 Jul 04, 2010 (132)
31 BUSHMAN ss201332431 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss207499142 Jul 04, 2010 (132)
33 1000GENOMES ss222170874 Jul 14, 2010 (132)
34 1000GENOMES ss233296311 Jul 14, 2010 (132)
35 1000GENOMES ss240387730 Jul 15, 2010 (132)
36 BL ss253989362 May 09, 2011 (134)
37 GMI ss278626727 May 04, 2012 (137)
38 GMI ss285327198 Apr 25, 2013 (138)
39 ILLUMINA ss479308816 May 04, 2012 (137)
40 ILLUMINA ss485224394 May 04, 2012 (137)
41 1000GENOMES ss490918600 May 04, 2012 (137)
42 CLINSEQ_SNP ss491879930 May 04, 2012 (137)
43 ILLUMINA ss532881104 Sep 08, 2015 (146)
44 TISHKOFF ss558958187 Apr 25, 2013 (138)
45 SSMP ss652870063 Apr 25, 2013 (138)
46 NHLBI-ESP ss712688112 Apr 25, 2013 (138)
47 ILLUMINA ss779562593 Sep 08, 2015 (146)
48 ILLUMINA ss780949287 Sep 08, 2015 (146)
49 ILLUMINA ss825490314 Apr 01, 2015 (144)
50 ILLUMINA ss832944645 Aug 21, 2014 (142)
51 ILLUMINA ss833535475 Aug 21, 2014 (142)
52 ILLUMINA ss835033757 Sep 08, 2015 (146)
53 JMKIDD_LAB ss974458664 Aug 21, 2014 (142)
54 EVA-GONL ss982515896 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1067474900 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1073329461 Aug 21, 2014 (142)
57 1000GENOMES ss1318717830 Aug 21, 2014 (142)
58 DDI ss1430616162 Apr 01, 2015 (144)
59 EVA_GENOME_DK ss1581504454 Apr 01, 2015 (144)
60 EVA_DECODE ss1592061526 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1614811330 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1657805363 Apr 01, 2015 (144)
63 EVA_EXAC ss1688140445 Apr 01, 2015 (144)
64 EVA_MGP ss1711110328 Apr 01, 2015 (144)
65 EVA_SVP ss1712829971 Apr 01, 2015 (144)
66 HAMMER_LAB ss1804248882 Sep 08, 2015 (146)
67 WEILL_CORNELL_DGM ss1925773173 Feb 12, 2016 (147)
68 GENOMED ss1970294339 Jul 19, 2016 (147)
69 JJLAB ss2023501106 Sep 14, 2016 (149)
70 USC_VALOUEV ss2151663021 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2281271563 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2626238859 Nov 08, 2017 (151)
73 ILLUMINA ss2634390487 Nov 08, 2017 (151)
74 GRF ss2707247735 Nov 08, 2017 (151)
75 GNOMAD ss2735510926 Nov 08, 2017 (151)
76 GNOMAD ss2747538103 Nov 08, 2017 (151)
77 GNOMAD ss2835087197 Nov 08, 2017 (151)
78 SWEGEN ss2998412142 Nov 08, 2017 (151)
79 BIOINF_KMB_FNS_UNIBA ss3025534014 Nov 08, 2017 (151)
80 CSHL ss3346804482 Nov 08, 2017 (151)
81 ILLUMINA ss3629428049 Oct 12, 2018 (152)
82 ILLUMINA ss3632311124 Oct 12, 2018 (152)
83 ILLUMINA ss3638602951 Oct 12, 2018 (152)
84 ILLUMINA ss3639304053 Oct 12, 2018 (152)
85 ILLUMINA ss3639676886 Oct 12, 2018 (152)
86 ILLUMINA ss3642469025 Oct 12, 2018 (152)
87 ILLUMINA ss3643545147 Oct 12, 2018 (152)
88 OMUKHERJEE_ADBS ss3646330036 Oct 12, 2018 (152)
89 URBANLAB ss3648253358 Oct 12, 2018 (152)
90 EGCUT_WGS ss3666335188 Jul 13, 2019 (153)
91 EVA_DECODE ss3716454918 Jul 13, 2019 (153)
92 ACPOP ss3733145417 Jul 13, 2019 (153)
93 EVA ss3764531977 Jul 13, 2019 (153)
94 PACBIO ss3785353781 Jul 13, 2019 (153)
95 PACBIO ss3790721893 Jul 13, 2019 (153)
96 PACBIO ss3795599050 Jul 13, 2019 (153)
97 KHV_HUMAN_GENOMES ss3807692867 Jul 13, 2019 (153)
98 EVA ss3824151606 Apr 26, 2020 (154)
99 EVA ss3825688716 Apr 26, 2020 (154)
100 EVA ss3829696542 Apr 26, 2020 (154)
101 EVA ss3838322757 Apr 26, 2020 (154)
102 EVA ss3843762570 Apr 26, 2020 (154)
103 HGDP ss3847820208 Apr 26, 2020 (154)
104 SGDP_PRJ ss3863782801 Apr 26, 2020 (154)
105 KRGDB ss3910516299 Apr 26, 2020 (154)
106 FSA-LAB ss3984327496 Apr 26, 2021 (155)
107 FSA-LAB ss3984327497 Apr 26, 2021 (155)
108 EVA ss3985194828 Apr 26, 2021 (155)
109 EVA ss3986334188 Apr 26, 2021 (155)
110 EVA ss4017251387 Apr 26, 2021 (155)
111 TOPMED ss4691572843 Apr 26, 2021 (155)
112 TOMMO_GENOMICS ss5175874354 Apr 26, 2021 (155)
113 EVA ss5237189003 Apr 26, 2021 (155)
114 1000G_HIGH_COVERAGE ss5267175801 Oct 13, 2022 (156)
115 EVA ss5315116312 Oct 13, 2022 (156)
116 EVA ss5363402344 Oct 13, 2022 (156)
117 HUGCELL_USP ss5464990495 Oct 13, 2022 (156)
118 EVA ss5508328760 Oct 13, 2022 (156)
119 1000G_HIGH_COVERAGE ss5552496909 Oct 13, 2022 (156)
120 EVA ss5623934517 Oct 13, 2022 (156)
121 EVA ss5624153987 Oct 13, 2022 (156)
122 SANFORD_IMAGENETICS ss5639637704 Oct 13, 2022 (156)
123 TOMMO_GENOMICS ss5713458160 Oct 13, 2022 (156)
124 EVA ss5800054965 Oct 13, 2022 (156)
125 EVA ss5800126829 Oct 13, 2022 (156)
126 YY_MCH ss5807095198 Oct 13, 2022 (156)
127 EVA ss5841703692 Oct 13, 2022 (156)
128 EVA ss5848644340 Oct 13, 2022 (156)
129 EVA ss5855173809 Oct 13, 2022 (156)
130 EVA ss5882395608 Oct 13, 2022 (156)
131 EVA ss5936529360 Oct 13, 2022 (156)
132 EVA ss5968130691 Oct 13, 2022 (156)
133 EVA ss5981232712 Oct 13, 2022 (156)
134 1000Genomes NC_000006.11 - 2948965 Oct 12, 2018 (152)
135 1000Genomes_30x NC_000006.12 - 2948731 Oct 13, 2022 (156)
136 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 2948965 Oct 12, 2018 (152)
137 Genetic variation in the Estonian population NC_000006.11 - 2948965 Oct 12, 2018 (152)
138 ExAC NC_000006.11 - 2948965 Oct 12, 2018 (152)
139 The Danish reference pan genome NC_000006.11 - 2948965 Apr 26, 2020 (154)
140 gnomAD - Genomes NC_000006.12 - 2948731 Apr 26, 2021 (155)
141 gnomAD - Exomes NC_000006.11 - 2948965 Jul 13, 2019 (153)
142 GO Exome Sequencing Project NC_000006.11 - 2948965 Oct 12, 2018 (152)
143 Genome of the Netherlands Release 5 NC_000006.11 - 2948965 Apr 26, 2020 (154)
144 HGDP-CEPH-db Supplement 1 NC_000006.10 - 2893964 Apr 26, 2020 (154)
145 HapMap NC_000006.12 - 2948731 Apr 26, 2020 (154)
146 KOREAN population from KRGDB NC_000006.11 - 2948965 Apr 26, 2020 (154)
147 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 2948965 Apr 26, 2020 (154)
148 Northern Sweden NC_000006.11 - 2948965 Jul 13, 2019 (153)
149 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 2948965 Apr 26, 2021 (155)
150 Qatari NC_000006.11 - 2948965 Apr 26, 2020 (154)
151 SGDP_PRJ NC_000006.11 - 2948965 Apr 26, 2020 (154)
152 Siberian NC_000006.11 - 2948965 Apr 26, 2020 (154)
153 8.3KJPN NC_000006.11 - 2948965 Apr 26, 2021 (155)
154 14KJPN NC_000006.12 - 2948731 Oct 13, 2022 (156)
155 TopMed NC_000006.12 - 2948731 Apr 26, 2021 (155)
156 UK 10K study - Twins NC_000006.11 - 2948965 Oct 12, 2018 (152)
157 A Vietnamese Genetic Variation Database NC_000006.11 - 2948965 Jul 13, 2019 (153)
158 ALFA NC_000006.12 - 2948731 Apr 26, 2021 (155)
159 ClinVar RCV001537540.2 Oct 13, 2022 (156)
160 ClinVar RCV001807419.2 Oct 13, 2022 (156)
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)
rs59844616 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
17693693, ss3910516299 NC_000006.11:2948964:C:A NC_000006.12:2948730:C:A (self)
17693693, ss3910516299 NC_000006.11:2948964:C:G NC_000006.12:2948730:C:G (self)
ss3639304053, ss3639676886 NC_000006.9:2893963:C:T NC_000006.12:2948730:C:T (self)
498100, ss109699822, ss113803924, ss116272605, ss161966031, ss163063040, ss166030356, ss201332431, ss207499142, ss253989362, ss278626727, ss285327198, ss485224394, ss491879930, ss825490314, ss1592061526, ss1712829971, ss3643545147, ss3847820208 NC_000006.10:2893963:C:T NC_000006.12:2948730:C:T (self)
30450248, 16948487, 12073436, 8157714, 7669393, 4646064, 609663, 7522847, 17693693, 226088, 6430282, 420755, 7815103, 15799781, 4179375, 33843661, 16948487, 3753700, ss222170874, ss233296311, ss240387730, ss479308816, ss490918600, ss532881104, ss558958187, ss652870063, ss712688112, ss779562593, ss780949287, ss832944645, ss833535475, ss835033757, ss974458664, ss982515896, ss1067474900, ss1073329461, ss1318717830, ss1430616162, ss1581504454, ss1614811330, ss1657805363, ss1688140445, ss1711110328, ss1804248882, ss1925773173, ss1970294339, ss2023501106, ss2151663021, ss2626238859, ss2634390487, ss2707247735, ss2735510926, ss2747538103, ss2835087197, ss2998412142, ss3346804482, ss3629428049, ss3632311124, ss3638602951, ss3642469025, ss3646330036, ss3666335188, ss3733145417, ss3764531977, ss3785353781, ss3790721893, ss3795599050, ss3824151606, ss3825688716, ss3829696542, ss3838322757, ss3863782801, ss3910516299, ss3984327496, ss3984327497, ss3985194828, ss3986334188, ss4017251387, ss5175874354, ss5315116312, ss5363402344, ss5508328760, ss5623934517, ss5624153987, ss5639637704, ss5800054965, ss5800126829, ss5841703692, ss5848644340, ss5936529360, ss5968130691, ss5981232712 NC_000006.11:2948964:C:T NC_000006.12:2948730:C:T (self)
RCV001537540.2, RCV001807419.2, 40022844, 215318327, 3045845, 47295264, 528950401, 12626875496, ss2281271563, ss3025534014, ss3648253358, ss3716454918, ss3807692867, ss3843762570, ss4691572843, ss5237189003, ss5267175801, ss5464990495, ss5552496909, ss5713458160, ss5807095198, ss5855173809, ss5882395608 NC_000006.12:2948730:C:T NC_000006.12:2948730:C:T (self)
ss407732, ss1171587, ss1913156, ss3891179, ss44766068, ss66616024, ss67292461, ss67696211, ss70771050, ss71346342, ss75451339, ss79159796, ss83425190, ss98361166, ss105975388, ss122178883, ss154256481, ss156453415, ss159433047, ss171558421, ss173572815 NT_007592.15:2888964:C:T NC_000006.12:2948730:C:T (self)
ss17138479, ss19686062, ss22452662 NT_034880.3:2888963:C:T NC_000006.12:2948730: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 rs318426

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