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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.

rs1885296

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:2970707 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.169697 (44917/264690, TOPMED)
G=0.167105 (21497/128644, GnomAD)
G=0.07262 (2051/28242, 14KJPN) (+ 14 more)
G=0.07022 (1175/16732, 8.3KJPN)
G=0.1351 (865/6404, 1000G_30x)
G=0.2171 (1111/5118, ALFA)
G=0.1330 (666/5008, 1000G)
G=0.1603 (709/4424, Estonian)
G=0.1718 (662/3854, ALSPAC)
G=0.1756 (651/3708, TWINSUK)
G=0.0621 (182/2930, KOREAN)
G=0.175 (175/998, GoNL)
G=0.172 (103/600, NorthernSweden)
G=0.111 (61/548, SGDP_PRJ)
G=0.111 (24/216, Qatari)
G=0.04 (2/54, Siberian)
G=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 5118 G=0.2171 A=0.0000, C=0.7829, T=0.0000 0.088707 0.654553 0.256741 32
European Sub 4730 G=0.1937 A=0.0000, C=0.8063, T=0.0000 0.062579 0.675264 0.262156 32
African Sub 156 G=0.756 A=0.000, C=0.244, T=0.000 0.717949 0.205128 0.076923 26
African Others Sub 4 G=1.0 A=0.0, C=0.0, T=0.0 1.0 0.0 0.0 N/A
African American Sub 152 G=0.750 A=0.000, C=0.250, T=0.000 0.710526 0.210526 0.078947 25
Asian Sub 0 G=0 A=0, C=0, T=0 0 0 0 N/A
East Asian Sub 0 G=0 A=0, C=0, T=0 0 0 0 N/A
Other Asian Sub 0 G=0 A=0, C=0, T=0 0 0 0 N/A
Latin American 1 Sub 4 G=1.0 A=0.0, C=0.0, T=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 16 G=1.00 A=0.00, C=0.00, T=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 G=0 A=0, C=0, T=0 0 0 0 N/A
Other Sub 212 G=0.269 A=0.000, C=0.731, T=0.000 0.122642 0.584906 0.292453 4


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 G=0.169697 C=0.830303
gnomAD - Genomes Global Study-wide 128644 G=0.167105 C=0.832895
gnomAD - Genomes European Sub 70642 G=0.16753 C=0.83247
gnomAD - Genomes African Sub 37348 G=0.18555 C=0.81445
gnomAD - Genomes American Sub 12406 G=0.15098 C=0.84902
gnomAD - Genomes Ashkenazi Jewish Sub 3284 G=0.1099 C=0.8901
gnomAD - Genomes East Asian Sub 3032 G=0.0557 C=0.9443
gnomAD - Genomes Other Sub 1932 G=0.1703 C=0.8297
14KJPN JAPANESE Study-wide 28242 G=0.07262 C=0.92738
8.3KJPN JAPANESE Study-wide 16732 G=0.07022 C=0.92978
1000Genomes_30x Global Study-wide 6404 G=0.1351 C=0.8649
1000Genomes_30x African Sub 1786 G=0.2161 C=0.7839
1000Genomes_30x Europe Sub 1266 G=0.1532 C=0.8468
1000Genomes_30x South Asian Sub 1202 G=0.0649 C=0.9351
1000Genomes_30x East Asian Sub 1170 G=0.0547 C=0.9453
1000Genomes_30x American Sub 980 G=0.146 C=0.854
Allele Frequency Aggregator Total Global 5118 G=0.2171 A=0.0000, C=0.7829, T=0.0000
Allele Frequency Aggregator European Sub 4730 G=0.1937 A=0.0000, C=0.8063, T=0.0000
Allele Frequency Aggregator Other Sub 212 G=0.269 A=0.000, C=0.731, T=0.000
Allele Frequency Aggregator African Sub 156 G=0.756 A=0.000, C=0.244, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 16 G=1.00 A=0.00, C=0.00, T=0.00
Allele Frequency Aggregator Latin American 1 Sub 4 G=1.0 A=0.0, C=0.0, T=0.0
Allele Frequency Aggregator South Asian Sub 0 G=0 A=0, C=0, T=0
Allele Frequency Aggregator Asian Sub 0 G=0 A=0, C=0, T=0
1000Genomes Global Study-wide 5008 G=0.1330 C=0.8670
1000Genomes African Sub 1322 G=0.2148 C=0.7852
1000Genomes East Asian Sub 1008 G=0.0565 C=0.9435
1000Genomes Europe Sub 1006 G=0.1541 C=0.8459
1000Genomes South Asian Sub 978 G=0.067 C=0.933
1000Genomes American Sub 694 G=0.150 C=0.850
Genetic variation in the Estonian population Estonian Study-wide 4424 G=0.1603 C=0.8397
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.1718 C=0.8282
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1756 C=0.8244
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0621 A=0.0000, C=0.9379, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.175 C=0.825
Northern Sweden ACPOP Study-wide 600 G=0.172 C=0.828
SGDP_PRJ Global Study-wide 548 G=0.111 C=0.889
Qatari Global Study-wide 216 G=0.111 C=0.889
Siberian Global Study-wide 54 G=0.04 C=0.96
The Danish reference pan genome Danish Study-wide 40 G=0.30 C=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.2970707G>A
GRCh38.p14 chr 6 NC_000006.12:g.2970707G>C
GRCh38.p14 chr 6 NC_000006.12:g.2970707G>T
GRCh37.p13 chr 6 NC_000006.11:g.2970941G>A
GRCh37.p13 chr 6 NC_000006.11:g.2970941G>C
GRCh37.p13 chr 6 NC_000006.11:g.2970941G>T
SERPINB6 RefSeqGene NG_027692.1:g.6459C>T
SERPINB6 RefSeqGene NG_027692.1:g.6459C>G
SERPINB6 RefSeqGene NG_027692.1:g.6459C>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.-134+826…

NM_001195291.3:c.-134+826C>T

 		N/A Intron Variant
SERPINB6 transcript variant 3 NM_001271822.2:c.32+410C>T N/A Intron Variant
SERPINB6 transcript variant 4 NM_001271823.2:c.47+51C>T N/A Intron Variant
SERPINB6 transcript variant 5 NM_001271824.2:c.-11+784C…

NM_001271824.2:c.-11+784C>T

 		N/A Intron Variant
SERPINB6 transcript variant 7 NM_001297699.2:c.-11+541C…

NM_001297699.2:c.-11+541C>T

 		N/A Intron Variant
SERPINB6 transcript variant 8 NM_001297700.2:c.-11+885C…

NM_001297700.2:c.-11+885C>T

 		N/A Intron Variant
SERPINB6 transcript variant 9 NM_001374515.1:c.-134+784…

NM_001374515.1:c.-134+784C>T

 		N/A Intron Variant
SERPINB6 transcript variant 11 NM_001374517.1:c.-103+410…

NM_001374517.1:c.-103+410C>T

 		N/A Intron Variant
SERPINB6 transcript variant 1 NM_004568.6:c.-11+826C>T N/A Intron Variant
SERPINB6 transcript variant 10 NM_001374516.1:c.-22= N/A 5 Prime UTR Variant
SERPINB6 transcript variant 6 NM_001271825.2:c. N/A Genic Upstream Transcript Variant
SERPINB6 transcript variant 12 NR_164657.1:n. N/A Intron Variant
SERPINB6 transcript variant X2 XM_011514672.2:c.-103+826…

XM_011514672.2:c.-103+826C>T

 		N/A Intron Variant
SERPINB6 transcript variant X3 XM_047418884.1:c.-103+410…

XM_047418884.1:c.-103+410C>T

 		N/A Intron Variant
SERPINB6 transcript variant X4 XM_047418885.1:c.-103+784…

XM_047418885.1:c.-103+784C>T

 		N/A Intron Variant
SERPINB6 transcript variant X5 XM_047418887.1:c.-103+541…

XM_047418887.1:c.-103+541C>T

 		N/A Intron Variant
SERPINB6 transcript variant X9 XM_047418893.1:c.-103+826…

XM_047418893.1:c.-103+826C>T

 		N/A Intron Variant
SERPINB6 transcript variant X1 XM_047418883.1:c.-1896= N/A 5 Prime UTR Variant
SERPINB6 transcript variant X6 XM_047418888.1:c.-114= N/A 5 Prime UTR Variant
SERPINB6 transcript variant X7 XM_047418889.1:c.-1927= N/A 5 Prime UTR Variant
SERPINB6 transcript variant X11 XM_047418890.1:c.-1907= N/A 5 Prime UTR Variant
SERPINB6 transcript variant X10 XM_017010941.2:c.-1896= N/A 5 Prime UTR Variant
SERPINB6 transcript variant X13 XM_024446465.2:c.-114= N/A 5 Prime UTR Variant
SERPINB6 transcript variant X12 XM_047418891.1:c. N/A Genic Upstream Transcript Variant
SERPINB6 transcript variant X8 XM_047418892.1:c. N/A Genic Upstream Transcript Variant
Help

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

Allele: C (allele ID: 1261194 )
ClinVar Accession Disease Names Clinical Significance
RCV001679868.1 not provided 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 G= A C T
GRCh38.p14 chr 6 NC_000006.12:g.2970707= NC_000006.12:g.2970707G>A NC_000006.12:g.2970707G>C NC_000006.12:g.2970707G>T
GRCh37.p13 chr 6 NC_000006.11:g.2970941= NC_000006.11:g.2970941G>A NC_000006.11:g.2970941G>C NC_000006.11:g.2970941G>T
SERPINB6 RefSeqGene NG_027692.1:g.6459= NG_027692.1:g.6459C>T NG_027692.1:g.6459C>G NG_027692.1:g.6459C>A
SERPINB6 transcript variant 10 NM_001374516.1:c.-22= NM_001374516.1:c.-22C>T NM_001374516.1:c.-22C>G NM_001374516.1:c.-22C>A
SERPINB6 transcript variant X10 XM_017010941.2:c.-1896= XM_017010941.2:c.-1896C>T XM_017010941.2:c.-1896C>G XM_017010941.2:c.-1896C>A
SERPINB6 transcript variant X7 XM_017010941.1:c.-1896= XM_017010941.1:c.-1896C>T XM_017010941.1:c.-1896C>G XM_017010941.1:c.-1896C>A
SERPINB6 transcript variant X13 XM_024446465.2:c.-114= XM_024446465.2:c.-114C>T XM_024446465.2:c.-114C>G XM_024446465.2:c.-114C>A
SERPINB6 transcript variant X9 XM_024446465.1:c.-114= XM_024446465.1:c.-114C>T XM_024446465.1:c.-114C>G XM_024446465.1:c.-114C>A
SERPINB6 transcript variant X1 XM_047418883.1:c.-1896= XM_047418883.1:c.-1896C>T XM_047418883.1:c.-1896C>G XM_047418883.1:c.-1896C>A
SERPINB6 transcript variant X7 XM_047418889.1:c.-1927= XM_047418889.1:c.-1927C>T XM_047418889.1:c.-1927C>G XM_047418889.1:c.-1927C>A
SERPINB6 transcript variant X11 XM_047418890.1:c.-1907= XM_047418890.1:c.-1907C>T XM_047418890.1:c.-1907C>G XM_047418890.1:c.-1907C>A
SERPINB6 transcript variant X6 XM_047418888.1:c.-114= XM_047418888.1:c.-114C>T XM_047418888.1:c.-114C>G XM_047418888.1:c.-114C>A
SERPINB6 transcript variant 2 NM_001195291.2:c.-134+826= NM_001195291.2:c.-134+826C>T NM_001195291.2:c.-134+826C>G NM_001195291.2:c.-134+826C>A
SERPINB6 transcript variant 2 NM_001195291.3:c.-134+826= NM_001195291.3:c.-134+826C>T NM_001195291.3:c.-134+826C>G NM_001195291.3:c.-134+826C>A
SERPINB6 transcript variant 3 NM_001271822.1:c.32+410= NM_001271822.1:c.32+410C>T NM_001271822.1:c.32+410C>G NM_001271822.1:c.32+410C>A
SERPINB6 transcript variant 3 NM_001271822.2:c.32+410= NM_001271822.2:c.32+410C>T NM_001271822.2:c.32+410C>G NM_001271822.2:c.32+410C>A
SERPINB6 transcript variant 4 NM_001271823.1:c.47+51= NM_001271823.1:c.47+51C>T NM_001271823.1:c.47+51C>G NM_001271823.1:c.47+51C>A
SERPINB6 transcript variant 4 NM_001271823.2:c.47+51= NM_001271823.2:c.47+51C>T NM_001271823.2:c.47+51C>G NM_001271823.2:c.47+51C>A
SERPINB6 transcript variant 5 NM_001271824.1:c.-11+784= NM_001271824.1:c.-11+784C>T NM_001271824.1:c.-11+784C>G NM_001271824.1:c.-11+784C>A
SERPINB6 transcript variant 5 NM_001271824.2:c.-11+784= NM_001271824.2:c.-11+784C>T NM_001271824.2:c.-11+784C>G NM_001271824.2:c.-11+784C>A
SERPINB6 transcript variant 7 NM_001297699.2:c.-11+541= NM_001297699.2:c.-11+541C>T NM_001297699.2:c.-11+541C>G NM_001297699.2:c.-11+541C>A
SERPINB6 transcript variant 8 NM_001297700.2:c.-11+885= NM_001297700.2:c.-11+885C>T NM_001297700.2:c.-11+885C>G NM_001297700.2:c.-11+885C>A
SERPINB6 transcript variant 9 NM_001374515.1:c.-134+784= NM_001374515.1:c.-134+784C>T NM_001374515.1:c.-134+784C>G NM_001374515.1:c.-134+784C>A
SERPINB6 transcript variant 11 NM_001374517.1:c.-103+410= NM_001374517.1:c.-103+410C>T NM_001374517.1:c.-103+410C>G NM_001374517.1:c.-103+410C>A
SERPINB6 transcript variant 1 NM_004568.5:c.-11+826= NM_004568.5:c.-11+826C>T NM_004568.5:c.-11+826C>G NM_004568.5:c.-11+826C>A
SERPINB6 transcript variant 1 NM_004568.6:c.-11+826= NM_004568.6:c.-11+826C>T NM_004568.6:c.-11+826C>G NM_004568.6:c.-11+826C>A
SERPINB6 transcript variant X2 XM_005249182.1:c.-11+541= XM_005249182.1:c.-11+541C>T XM_005249182.1:c.-11+541C>G XM_005249182.1:c.-11+541C>A
SERPINB6 transcript variant X2 XM_011514672.2:c.-103+826= XM_011514672.2:c.-103+826C>T XM_011514672.2:c.-103+826C>G XM_011514672.2:c.-103+826C>A
SERPINB6 transcript variant X3 XM_047418884.1:c.-103+410= XM_047418884.1:c.-103+410C>T XM_047418884.1:c.-103+410C>G XM_047418884.1:c.-103+410C>A
SERPINB6 transcript variant X4 XM_047418885.1:c.-103+784= XM_047418885.1:c.-103+784C>T XM_047418885.1:c.-103+784C>G XM_047418885.1:c.-103+784C>A
SERPINB6 transcript variant X5 XM_047418887.1:c.-103+541= XM_047418887.1:c.-103+541C>T XM_047418887.1:c.-103+541C>G XM_047418887.1:c.-103+541C>A
SERPINB6 transcript variant X9 XM_047418893.1:c.-103+826= XM_047418893.1:c.-103+826C>T XM_047418893.1:c.-103+826C>G XM_047418893.1:c.-103+826C>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#.

75 SubSNP, 17 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2764811 Jan 12, 2001 (92)
2 SC_SNP ss12861349 Dec 05, 2003 (119)
3 SC_SNP ss15747440 Feb 27, 2004 (120)
4 SSAHASNP ss22472835 Apr 05, 2004 (121)
5 HGSV ss80694183 Dec 15, 2007 (130)
6 HGSV ss86202078 Dec 15, 2007 (130)
7 HUMANGENOME_JCVI ss98361203 Feb 05, 2009 (130)
8 BGI ss105975416 Feb 05, 2009 (130)
9 1000GENOMES ss109700016 Jan 24, 2009 (130)
10 1000GENOMES ss113804213 Jan 25, 2009 (130)
11 ILLUMINA-UK ss116272720 Feb 14, 2009 (130)
12 ENSEMBL ss143072499 Dec 01, 2009 (131)
13 GMI ss156453709 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss161966303 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss163063260 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss166030706 Jul 04, 2010 (132)
17 BUSHMAN ss201332631 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss207428964 Jul 04, 2010 (132)
19 1000GENOMES ss222170969 Jul 14, 2010 (132)
20 1000GENOMES ss233296393 Jul 14, 2010 (132)
21 1000GENOMES ss240387797 Jul 15, 2010 (132)
22 BL ss253989603 May 09, 2011 (134)
23 GMI ss278626801 May 04, 2012 (137)
24 GMI ss285327225 Apr 25, 2013 (138)
25 PJP ss293584995 May 09, 2011 (134)
26 TISHKOFF ss558958306 Apr 25, 2013 (138)
27 SSMP ss652870179 Apr 25, 2013 (138)
28 EVA-GONL ss982516098 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1073329595 Aug 21, 2014 (142)
30 1000GENOMES ss1318718472 Aug 21, 2014 (142)
31 DDI ss1430616209 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1581504531 Apr 01, 2015 (144)
33 EVA_DECODE ss1592061699 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1614811673 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1657805706 Apr 01, 2015 (144)
36 HAMMER_LAB ss1804248918 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1925773340 Feb 12, 2016 (147)
38 GENOMED ss1970294397 Jul 19, 2016 (147)
39 USC_VALOUEV ss2151663134 Dec 20, 2016 (150)
40 SYSTEMSBIOZJU ss2626238926 Nov 08, 2017 (151)
41 GRF ss2707247849 Nov 08, 2017 (151)
42 GNOMAD ss2835088895 Nov 08, 2017 (151)
43 SWEGEN ss2998412388 Nov 08, 2017 (151)
44 BIOINF_KMB_FNS_UNIBA ss3025534078 Nov 08, 2017 (151)
45 CSHL ss3346804579 Nov 08, 2017 (151)
46 URBANLAB ss3648253411 Oct 12, 2018 (152)
47 EGCUT_WGS ss3666335482 Jul 13, 2019 (153)
48 EVA_DECODE ss3716455200 Jul 13, 2019 (153)
49 EVA_DECODE ss3716455201 Jul 13, 2019 (153)
50 ACPOP ss3733145571 Jul 13, 2019 (153)
51 EVA ss3764532188 Jul 13, 2019 (153)
52 PACBIO ss3785353846 Jul 13, 2019 (153)
53 PACBIO ss3790721945 Jul 13, 2019 (153)
54 PACBIO ss3795599102 Jul 13, 2019 (153)
55 KHV_HUMAN_GENOMES ss3807693074 Jul 13, 2019 (153)
56 EVA ss3829696633 Apr 26, 2020 (154)
57 EVA ss3838322809 Apr 26, 2020 (154)
58 EVA ss3843762622 Apr 26, 2020 (154)
59 SGDP_PRJ ss3863783107 Apr 26, 2020 (154)
60 KRGDB ss3910516648 Apr 26, 2020 (154)
61 TOPMED ss4691577977 Apr 26, 2021 (155)
62 TOMMO_GENOMICS ss5175875088 Apr 26, 2021 (155)
63 1000G_HIGH_COVERAGE ss5267176337 Oct 13, 2022 (156)
64 HUGCELL_USP ss5464991001 Oct 13, 2022 (156)
65 1000G_HIGH_COVERAGE ss5552497706 Oct 13, 2022 (156)
66 EVA ss5623934521 Oct 13, 2022 (156)
67 EVA ss5624153999 Oct 13, 2022 (156)
68 SANFORD_IMAGENETICS ss5639638012 Oct 13, 2022 (156)
69 TOMMO_GENOMICS ss5713459084 Oct 13, 2022 (156)
70 EVA ss5800126836 Oct 13, 2022 (156)
71 YY_MCH ss5807095345 Oct 13, 2022 (156)
72 EVA ss5841703918 Oct 13, 2022 (156)
73 EVA ss5855173894 Oct 13, 2022 (156)
74 EVA ss5882396270 Oct 13, 2022 (156)
75 EVA ss5968131011 Oct 13, 2022 (156)
76 1000Genomes NC_000006.11 - 2970941 Oct 12, 2018 (152)
77 1000Genomes_30x NC_000006.12 - 2970707 Oct 13, 2022 (156)
78 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 2970941 Oct 12, 2018 (152)
79 Genetic variation in the Estonian population NC_000006.11 - 2970941 Oct 12, 2018 (152)
80 The Danish reference pan genome NC_000006.11 - 2970941 Apr 26, 2020 (154)
81 gnomAD - Genomes NC_000006.12 - 2970707 Apr 26, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000006.11 - 2970941 Apr 26, 2020 (154)
83 KOREAN population from KRGDB NC_000006.11 - 2970941 Apr 26, 2020 (154)
84 Northern Sweden NC_000006.11 - 2970941 Jul 13, 2019 (153)
85 Qatari NC_000006.11 - 2970941 Apr 26, 2020 (154)
86 SGDP_PRJ NC_000006.11 - 2970941 Apr 26, 2020 (154)
87 Siberian NC_000006.11 - 2970941 Apr 26, 2020 (154)
88 8.3KJPN NC_000006.11 - 2970941 Apr 26, 2021 (155)
89 14KJPN NC_000006.12 - 2970707 Oct 13, 2022 (156)
90 TopMed NC_000006.12 - 2970707 Apr 26, 2021 (155)
91 UK 10K study - Twins NC_000006.11 - 2970941 Oct 12, 2018 (152)
92 ALFA NC_000006.12 - 2970707 Apr 26, 2021 (155)
93 ClinVar RCV001679868.1 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)
rs58673696 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
17694042, ss3910516648 NC_000006.11:2970940:G:A NC_000006.12:2970706:G:A (self)
14362528297, ss3716455200 NC_000006.12:2970706:G:A NC_000006.12:2970706:G:A (self)
ss80694183, ss86202078 NC_000006.9:2915939:G:C NC_000006.12:2970706:G:C (self)
ss109700016, ss113804213, ss116272720, ss161966303, ss163063260, ss166030706, ss201332631, ss207428964, ss253989603, ss278626801, ss285327225, ss293584995, ss1592061699 NC_000006.10:2915939:G:C NC_000006.12:2970706:G:C (self)
30450915, 16948869, 12073730, 7669470, 7523049, 17694042, 6430436, 7815270, 15800087, 4179488, 33844395, 16948869, ss222170969, ss233296393, ss240387797, ss558958306, ss652870179, ss982516098, ss1073329595, ss1318718472, ss1430616209, ss1581504531, ss1614811673, ss1657805706, ss1804248918, ss1925773340, ss1970294397, ss2151663134, ss2626238926, ss2707247849, ss2835088895, ss2998412388, ss3346804579, ss3666335482, ss3733145571, ss3764532188, ss3785353846, ss3790721945, ss3795599102, ss3829696633, ss3838322809, ss3863783107, ss3910516648, ss5175875088, ss5623934521, ss5624153999, ss5639638012, ss5800126836, ss5841703918, ss5968131011 NC_000006.11:2970940:G:C NC_000006.12:2970706:G:C (self)
RCV001679868.1, 40023641, 215322574, 47296188, 528955535, 14362528297, ss3025534078, ss3648253411, ss3716455201, ss3807693074, ss3843762622, ss4691577977, ss5267176337, ss5464991001, ss5552497706, ss5713459084, ss5807095345, ss5855173894, ss5882396270 NC_000006.12:2970706:G:C NC_000006.12:2970706:G:C (self)
ss2764811, ss98361203, ss105975416, ss143072499, ss156453709 NT_007592.15:2910940:G:C NC_000006.12:2970706:G:C (self)
ss12861349 NT_034880.2:2910939:G:C NC_000006.12:2970706:G:C (self)
ss15747440, ss22472835 NT_034880.3:2910939:G:C NC_000006.12:2970706:G:C (self)
17694042, ss3910516648 NC_000006.11:2970940:G:T NC_000006.12:2970706:G:T (self)
14362528297 NC_000006.12:2970706:G:T NC_000006.12:2970706:G: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 rs1885296

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