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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.

rs1040858

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:2954385 (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>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.172617 (45690/264690, TOPMED)
C=0.19346 (6803/35164, ALFA)
C=0.06062 (1713/28258, 14KJPN) (+ 15 more)
C=0.05770 (967/16760, 8.3KJPN)
C=0.1452 (930/6404, 1000G_30x)
C=0.1406 (704/5008, 1000G)
C=0.1795 (804/4480, Estonian)
C=0.1863 (718/3854, ALSPAC)
C=0.1872 (694/3708, TWINSUK)
C=0.0427 (125/2930, KOREAN)
C=0.197 (197/998, GoNL)
C=0.183 (110/600, NorthernSweden)
C=0.115 (63/548, SGDP_PRJ)
C=0.133 (44/330, HapMap)
C=0.111 (24/216, Qatari)
C=0.028 (6/212, Vietnamese)
C=0.02 (1/52, 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 35164 C=0.19346 G=0.00000, T=0.80654 0.042145 0.655216 0.302639 9
European Sub 25010 C=0.19416 G=0.00000, T=0.80584 0.041024 0.652699 0.306277 4
African Sub 2204 C=0.2146 G=0.0000, T=0.7854 0.063521 0.634301 0.302178 7
African Others Sub 74 C=0.19 G=0.00, T=0.81 0.027027 0.648649 0.324324 0
African American Sub 2130 C=0.2155 G=0.0000, T=0.7845 0.064789 0.633803 0.301408 7
Asian Sub 330 C=0.033 G=0.000, T=0.967 0.0 0.933333 0.066667 0
East Asian Sub 288 C=0.031 G=0.000, T=0.969 0.0 0.9375 0.0625 0
Other Asian Sub 42 C=0.05 G=0.00, T=0.95 0.0 0.904762 0.095238 0
Latin American 1 Sub 436 C=0.220 G=0.000, T=0.780 0.068807 0.62844 0.302752 2
Latin American 2 Sub 4320 C=0.1870 G=0.0000, T=0.8130 0.040278 0.666204 0.293519 2
South Asian Sub 70 C=0.21 G=0.00, T=0.79 0.085714 0.657143 0.257143 1
Other Sub 2794 C=0.1947 G=0.0000, T=0.8053 0.037938 0.648533 0.313529 0


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=0.172617 T=0.827383
Allele Frequency Aggregator Total Global 35164 C=0.19346 G=0.00000, T=0.80654
Allele Frequency Aggregator European Sub 25010 C=0.19416 G=0.00000, T=0.80584
Allele Frequency Aggregator Latin American 2 Sub 4320 C=0.1870 G=0.0000, T=0.8130
Allele Frequency Aggregator Other Sub 2794 C=0.1947 G=0.0000, T=0.8053
Allele Frequency Aggregator African Sub 2204 C=0.2146 G=0.0000, T=0.7854
Allele Frequency Aggregator Latin American 1 Sub 436 C=0.220 G=0.000, T=0.780
Allele Frequency Aggregator Asian Sub 330 C=0.033 G=0.000, T=0.967
Allele Frequency Aggregator South Asian Sub 70 C=0.21 G=0.00, T=0.79
14KJPN JAPANESE Study-wide 28258 C=0.06062 T=0.93938
8.3KJPN JAPANESE Study-wide 16760 C=0.05770 T=0.94230
1000Genomes_30x Global Study-wide 6404 C=0.1452 T=0.8548
1000Genomes_30x African Sub 1786 C=0.1865 T=0.8135
1000Genomes_30x Europe Sub 1266 C=0.1635 T=0.8365
1000Genomes_30x South Asian Sub 1202 C=0.1406 T=0.8594
1000Genomes_30x East Asian Sub 1170 C=0.0333 T=0.9667
1000Genomes_30x American Sub 980 C=0.186 T=0.814
1000Genomes Global Study-wide 5008 C=0.1406 T=0.8594
1000Genomes African Sub 1322 C=0.1800 T=0.8200
1000Genomes East Asian Sub 1008 C=0.0357 T=0.9643
1000Genomes Europe Sub 1006 C=0.1650 T=0.8350
1000Genomes South Asian Sub 978 C=0.137 T=0.863
1000Genomes American Sub 694 C=0.187 T=0.813
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.1795 T=0.8205
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.1863 T=0.8137
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.1872 T=0.8128
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.0427 T=0.9573
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.197 T=0.803
Northern Sweden ACPOP Study-wide 600 C=0.183 T=0.817
SGDP_PRJ Global Study-wide 548 C=0.115 T=0.885
HapMap Global Study-wide 330 C=0.133 T=0.867
HapMap African Sub 120 C=0.167 T=0.833
HapMap American Sub 120 C=0.192 T=0.808
HapMap Asian Sub 90 C=0.01 T=0.99
Qatari Global Study-wide 216 C=0.111 T=0.889
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.028 T=0.972
Siberian Global Study-wide 52 C=0.02 T=0.98
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.2954385C>G
GRCh38.p14 chr 6 NC_000006.12:g.2954385C>T
GRCh37.p13 chr 6 NC_000006.11:g.2954619C>G
GRCh37.p13 chr 6 NC_000006.11:g.2954619C>T
SERPINB6 RefSeqGene NG_027692.1:g.22781G>C
SERPINB6 RefSeqGene NG_027692.1:g.22781G>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.442+207G…

NM_001195291.3:c.442+207G>C

N/A Intron Variant
SERPINB6 transcript variant 3 NM_001271822.2:c.472+207G…

NM_001271822.2:c.472+207G>C

N/A Intron Variant
SERPINB6 transcript variant 4 NM_001271823.2:c.487+207G…

NM_001271823.2:c.487+207G>C

N/A Intron Variant
SERPINB6 transcript variant 5 NM_001271824.2:c.430+207G…

NM_001271824.2:c.430+207G>C

N/A Intron Variant
SERPINB6 transcript variant 6 NM_001271825.2:c.430+207G…

NM_001271825.2:c.430+207G>C

N/A Intron Variant
SERPINB6 transcript variant 7 NM_001297699.2:c.430+207G…

NM_001297699.2:c.430+207G>C

N/A Intron Variant
SERPINB6 transcript variant 8 NM_001297700.2:c.430+207G…

NM_001297700.2:c.430+207G>C

N/A Intron Variant
SERPINB6 transcript variant 9 NM_001374515.1:c.442+207G…

NM_001374515.1:c.442+207G>C

N/A Intron Variant
SERPINB6 transcript variant 10 NM_001374516.1:c.430+207G…

NM_001374516.1:c.430+207G>C

N/A Intron Variant
SERPINB6 transcript variant 11 NM_001374517.1:c.298+207G…

NM_001374517.1:c.298+207G>C

N/A Intron Variant
SERPINB6 transcript variant 1 NM_004568.6:c.430+207G>C N/A Intron Variant
SERPINB6 transcript variant 12 NR_164657.1:n. N/A Intron Variant
SERPINB6 transcript variant X2 XM_011514672.2:c.664+207G…

XM_011514672.2:c.664+207G>C

N/A Intron Variant
SERPINB6 transcript variant X10 XM_017010941.2:c.298+207G…

XM_017010941.2:c.298+207G>C

N/A Intron Variant
SERPINB6 transcript variant X13 XM_024446465.2:c.298+207G…

XM_024446465.2:c.298+207G>C

N/A Intron Variant
SERPINB6 transcript variant X1 XM_047418883.1:c.664+207G…

XM_047418883.1:c.664+207G>C

N/A Intron Variant
SERPINB6 transcript variant X3 XM_047418884.1:c.664+207G…

XM_047418884.1:c.664+207G>C

N/A Intron Variant
SERPINB6 transcript variant X4 XM_047418885.1:c.664+207G…

XM_047418885.1:c.664+207G>C

N/A Intron Variant
SERPINB6 transcript variant X5 XM_047418887.1:c.664+207G…

XM_047418887.1:c.664+207G>C

N/A Intron Variant
SERPINB6 transcript variant X6 XM_047418888.1:c.664+207G…

XM_047418888.1:c.664+207G>C

N/A Intron Variant
SERPINB6 transcript variant X7 XM_047418889.1:c.442+207G…

XM_047418889.1:c.442+207G>C

N/A Intron Variant
SERPINB6 transcript variant X11 XM_047418890.1:c.442+207G…

XM_047418890.1:c.442+207G>C

N/A Intron Variant
SERPINB6 transcript variant X12 XM_047418891.1:c.430+207G…

XM_047418891.1:c.430+207G>C

N/A Intron Variant
SERPINB6 transcript variant X8 XM_047418892.1:c.430+207G…

XM_047418892.1:c.430+207G>C

N/A Intron Variant
SERPINB6 transcript variant X9 XM_047418893.1:c.298+207G…

XM_047418893.1:c.298+207G>C

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: 1220502 )
ClinVar Accession Disease Names Clinical Significance
RCV001612595.3 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 C= G T
GRCh38.p14 chr 6 NC_000006.12:g.2954385= NC_000006.12:g.2954385C>G NC_000006.12:g.2954385C>T
GRCh37.p13 chr 6 NC_000006.11:g.2954619= NC_000006.11:g.2954619C>G NC_000006.11:g.2954619C>T
SERPINB6 RefSeqGene NG_027692.1:g.22781= NG_027692.1:g.22781G>C NG_027692.1:g.22781G>A
SERPINB6 transcript variant 2 NM_001195291.2:c.442+207= NM_001195291.2:c.442+207G>C NM_001195291.2:c.442+207G>A
SERPINB6 transcript variant 2 NM_001195291.3:c.442+207= NM_001195291.3:c.442+207G>C NM_001195291.3:c.442+207G>A
SERPINB6 transcript variant 3 NM_001271822.1:c.472+207= NM_001271822.1:c.472+207G>C NM_001271822.1:c.472+207G>A
SERPINB6 transcript variant 3 NM_001271822.2:c.472+207= NM_001271822.2:c.472+207G>C NM_001271822.2:c.472+207G>A
SERPINB6 transcript variant 4 NM_001271823.1:c.487+207= NM_001271823.1:c.487+207G>C NM_001271823.1:c.487+207G>A
SERPINB6 transcript variant 4 NM_001271823.2:c.487+207= NM_001271823.2:c.487+207G>C NM_001271823.2:c.487+207G>A
SERPINB6 transcript variant 5 NM_001271824.1:c.430+207= NM_001271824.1:c.430+207G>C NM_001271824.1:c.430+207G>A
SERPINB6 transcript variant 5 NM_001271824.2:c.430+207= NM_001271824.2:c.430+207G>C NM_001271824.2:c.430+207G>A
SERPINB6 transcript variant 6 NM_001271825.1:c.430+207= NM_001271825.1:c.430+207G>C NM_001271825.1:c.430+207G>A
SERPINB6 transcript variant 6 NM_001271825.2:c.430+207= NM_001271825.2:c.430+207G>C NM_001271825.2:c.430+207G>A
SERPINB6 transcript variant 7 NM_001297699.2:c.430+207= NM_001297699.2:c.430+207G>C NM_001297699.2:c.430+207G>A
SERPINB6 transcript variant 8 NM_001297700.2:c.430+207= NM_001297700.2:c.430+207G>C NM_001297700.2:c.430+207G>A
SERPINB6 transcript variant 9 NM_001374515.1:c.442+207= NM_001374515.1:c.442+207G>C NM_001374515.1:c.442+207G>A
SERPINB6 transcript variant 10 NM_001374516.1:c.430+207= NM_001374516.1:c.430+207G>C NM_001374516.1:c.430+207G>A
SERPINB6 transcript variant 11 NM_001374517.1:c.298+207= NM_001374517.1:c.298+207G>C NM_001374517.1:c.298+207G>A
SERPINB6 transcript variant 1 NM_004568.5:c.430+207= NM_004568.5:c.430+207G>C NM_004568.5:c.430+207G>A
SERPINB6 transcript variant 1 NM_004568.6:c.430+207= NM_004568.6:c.430+207G>C NM_004568.6:c.430+207G>A
SERPINB6 transcript variant X1 XM_005249181.1:c.529+207= XM_005249181.1:c.529+207G>C XM_005249181.1:c.529+207G>A
SERPINB6 transcript variant X2 XM_005249182.1:c.430+207= XM_005249182.1:c.430+207G>C XM_005249182.1:c.430+207G>A
SERPINB6 transcript variant X3 XM_005249183.1:c.163+207= XM_005249183.1:c.163+207G>C XM_005249183.1:c.163+207G>A
SERPINB6 transcript variant X2 XM_011514672.2:c.664+207= XM_011514672.2:c.664+207G>C XM_011514672.2:c.664+207G>A
SERPINB6 transcript variant X10 XM_017010941.2:c.298+207= XM_017010941.2:c.298+207G>C XM_017010941.2:c.298+207G>A
SERPINB6 transcript variant X13 XM_024446465.2:c.298+207= XM_024446465.2:c.298+207G>C XM_024446465.2:c.298+207G>A
SERPINB6 transcript variant X1 XM_047418883.1:c.664+207= XM_047418883.1:c.664+207G>C XM_047418883.1:c.664+207G>A
SERPINB6 transcript variant X3 XM_047418884.1:c.664+207= XM_047418884.1:c.664+207G>C XM_047418884.1:c.664+207G>A
SERPINB6 transcript variant X4 XM_047418885.1:c.664+207= XM_047418885.1:c.664+207G>C XM_047418885.1:c.664+207G>A
SERPINB6 transcript variant X5 XM_047418887.1:c.664+207= XM_047418887.1:c.664+207G>C XM_047418887.1:c.664+207G>A
SERPINB6 transcript variant X6 XM_047418888.1:c.664+207= XM_047418888.1:c.664+207G>C XM_047418888.1:c.664+207G>A
SERPINB6 transcript variant X7 XM_047418889.1:c.442+207= XM_047418889.1:c.442+207G>C XM_047418889.1:c.442+207G>A
SERPINB6 transcript variant X11 XM_047418890.1:c.442+207= XM_047418890.1:c.442+207G>C XM_047418890.1:c.442+207G>A
SERPINB6 transcript variant X12 XM_047418891.1:c.430+207= XM_047418891.1:c.430+207G>C XM_047418891.1:c.430+207G>A
SERPINB6 transcript variant X8 XM_047418892.1:c.430+207= XM_047418892.1:c.430+207G>C XM_047418892.1:c.430+207G>A
SERPINB6 transcript variant X9 XM_047418893.1:c.298+207= XM_047418893.1:c.298+207G>C XM_047418893.1:c.298+207G>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#.

79 SubSNP, 20 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1507406 Oct 05, 2000 (86)
2 YUSUKE ss3239645 Sep 28, 2001 (100)
3 SC_SNP ss15409664 Feb 27, 2004 (120)
4 SSAHASNP ss22465368 Apr 05, 2004 (121)
5 HGSV ss81322596 Dec 15, 2007 (130)
6 HGSV ss82181165 Dec 15, 2007 (130)
7 HUMANGENOME_JCVI ss98361177 Feb 05, 2009 (130)
8 BGI ss105975397 Feb 05, 2009 (130)
9 1000GENOMES ss109699866 Jan 24, 2009 (130)
10 1000GENOMES ss113803998 Jan 25, 2009 (130)
11 ILLUMINA-UK ss116272640 Feb 14, 2009 (130)
12 ENSEMBL ss143105521 Dec 01, 2009 (131)
13 GMI ss156453492 Dec 01, 2009 (131)
14 ILLUMINA ss159890309 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss161966094 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss163063076 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss166030429 Jul 04, 2010 (132)
18 BUSHMAN ss201332515 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss207297997 Jul 04, 2010 (132)
20 1000GENOMES ss222170894 Jul 14, 2010 (132)
21 1000GENOMES ss233296331 Jul 14, 2010 (132)
22 1000GENOMES ss240387746 Jul 15, 2010 (132)
23 BL ss253989418 May 09, 2011 (134)
24 GMI ss278626746 May 04, 2012 (137)
25 GMI ss285327204 Apr 25, 2013 (138)
26 PJP ss293584967 May 09, 2011 (134)
27 ILLUMINA ss479627084 Sep 08, 2015 (146)
28 TISHKOFF ss558958212 Apr 25, 2013 (138)
29 SSMP ss652870091 Apr 25, 2013 (138)
30 EVA-GONL ss982515940 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1073329489 Aug 21, 2014 (142)
32 1000GENOMES ss1318717984 Aug 21, 2014 (142)
33 DDI ss1430616175 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1581504470 Apr 01, 2015 (144)
35 EVA_DECODE ss1592061565 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1614811413 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1657805446 Apr 01, 2015 (144)
38 HAMMER_LAB ss1804248895 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1925773207 Feb 12, 2016 (147)
40 GENOMED ss1970294351 Jul 19, 2016 (147)
41 JJLAB ss2023501130 Sep 14, 2016 (149)
42 USC_VALOUEV ss2151663050 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2281271908 Dec 20, 2016 (150)
44 SYSTEMSBIOZJU ss2626238874 Nov 08, 2017 (151)
45 GRF ss2707247767 Nov 08, 2017 (151)
46 GNOMAD ss2835087622 Nov 08, 2017 (151)
47 SWEGEN ss2998412202 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3025534028 Nov 08, 2017 (151)
49 CSHL ss3346804504 Nov 08, 2017 (151)
50 ILLUMINA ss3636755468 Oct 12, 2018 (152)
51 OMUKHERJEE_ADBS ss3646330041 Oct 12, 2018 (152)
52 URBANLAB ss3648253372 Oct 12, 2018 (152)
53 EGCUT_WGS ss3666335252 Jul 13, 2019 (153)
54 EVA_DECODE ss3716454984 Jul 13, 2019 (153)
55 ACPOP ss3733145456 Jul 13, 2019 (153)
56 EVA ss3764532027 Jul 13, 2019 (153)
57 PACBIO ss3785353800 Jul 13, 2019 (153)
58 PACBIO ss3790721908 Jul 13, 2019 (153)
59 PACBIO ss3795599065 Jul 13, 2019 (153)
60 KHV_HUMAN_GENOMES ss3807692914 Jul 13, 2019 (153)
61 EVA ss3829696563 Apr 26, 2020 (154)
62 EVA ss3838322767 Apr 26, 2020 (154)
63 EVA ss3843762580 Apr 26, 2020 (154)
64 SGDP_PRJ ss3863782872 Apr 26, 2020 (154)
65 KRGDB ss3910516382 Apr 26, 2020 (154)
66 TOPMED ss4691574183 Apr 26, 2021 (155)
67 TOMMO_GENOMICS ss5175874562 Apr 26, 2021 (155)
68 1000G_HIGH_COVERAGE ss5267175933 Oct 13, 2022 (156)
69 EVA ss5363402597 Oct 13, 2022 (156)
70 HUGCELL_USP ss5464990636 Oct 13, 2022 (156)
71 EVA ss5508328771 Oct 13, 2022 (156)
72 1000G_HIGH_COVERAGE ss5552497104 Oct 13, 2022 (156)
73 SANFORD_IMAGENETICS ss5639637778 Oct 13, 2022 (156)
74 TOMMO_GENOMICS ss5713458430 Oct 13, 2022 (156)
75 YY_MCH ss5807095233 Oct 13, 2022 (156)
76 EVA ss5841703745 Oct 13, 2022 (156)
77 EVA ss5855173829 Oct 13, 2022 (156)
78 EVA ss5882395759 Oct 13, 2022 (156)
79 EVA ss5968130767 Oct 13, 2022 (156)
80 1000Genomes NC_000006.11 - 2954619 Oct 12, 2018 (152)
81 1000Genomes_30x NC_000006.12 - 2954385 Oct 13, 2022 (156)
82 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 2954619 Oct 12, 2018 (152)
83 Genetic variation in the Estonian population NC_000006.11 - 2954619 Oct 12, 2018 (152)
84 The Danish reference pan genome NC_000006.11 - 2954619 Apr 26, 2020 (154)
85 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 215319445 (NC_000006.12:2954384:C:G 1/140176)
Row 215319446 (NC_000006.12:2954384:C:T 115898/140142)

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

Submission ignored due to conflicting rows:
Row 215319445 (NC_000006.12:2954384:C:G 1/140176)
Row 215319446 (NC_000006.12:2954384:C:T 115898/140142)

- Apr 26, 2021 (155)
87 Genome of the Netherlands Release 5 NC_000006.11 - 2954619 Apr 26, 2020 (154)
88 HapMap NC_000006.12 - 2954385 Apr 26, 2020 (154)
89 KOREAN population from KRGDB NC_000006.11 - 2954619 Apr 26, 2020 (154)
90 Northern Sweden NC_000006.11 - 2954619 Jul 13, 2019 (153)
91 Qatari NC_000006.11 - 2954619 Apr 26, 2020 (154)
92 SGDP_PRJ NC_000006.11 - 2954619 Apr 26, 2020 (154)
93 Siberian NC_000006.11 - 2954619 Apr 26, 2020 (154)
94 8.3KJPN NC_000006.11 - 2954619 Apr 26, 2021 (155)
95 14KJPN NC_000006.12 - 2954385 Oct 13, 2022 (156)
96 TopMed NC_000006.12 - 2954385 Apr 26, 2021 (155)
97 UK 10K study - Twins NC_000006.11 - 2954619 Oct 12, 2018 (152)
98 A Vietnamese Genetic Variation Database NC_000006.11 - 2954619 Jul 13, 2019 (153)
99 ALFA NC_000006.12 - 2954385 Apr 26, 2021 (155)
100 ClinVar RCV001612595.3 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)
rs59818238 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
8324872632 NC_000006.12:2954384:C:G NC_000006.12:2954384:C:G (self)
ss81322596, ss82181165 NC_000006.9:2899617:C:T NC_000006.12:2954384:C:T (self)
ss109699866, ss113803998, ss116272640, ss161966094, ss163063076, ss166030429, ss201332515, ss207297997, ss253989418, ss278626746, ss285327204, ss293584967, ss1592061565 NC_000006.10:2899617:C:T NC_000006.12:2954384:C:T (self)
30450406, 16948579, 12073500, 7669409, 7522891, 17693776, 6430321, 7815137, 15799852, 4179404, 33843869, 16948579, 3753723, ss222170894, ss233296331, ss240387746, ss479627084, ss558958212, ss652870091, ss982515940, ss1073329489, ss1318717984, ss1430616175, ss1581504470, ss1614811413, ss1657805446, ss1804248895, ss1925773207, ss1970294351, ss2023501130, ss2151663050, ss2626238874, ss2707247767, ss2835087622, ss2998412202, ss3346804504, ss3636755468, ss3646330041, ss3666335252, ss3733145456, ss3764532027, ss3785353800, ss3790721908, ss3795599065, ss3829696563, ss3838322767, ss3863782872, ss3910516382, ss5175874562, ss5363402597, ss5508328771, ss5639637778, ss5841703745, ss5968130767 NC_000006.11:2954618:C:T NC_000006.12:2954384:C:T (self)
RCV001612595.3, 40023039, 3045859, 47295534, 528951741, 8324872632, ss2281271908, ss3025534028, ss3648253372, ss3716454984, ss3807692914, ss3843762580, ss4691574183, ss5267175933, ss5464990636, ss5552497104, ss5713458430, ss5807095233, ss5855173829, ss5882395759 NC_000006.12:2954384:C:T NC_000006.12:2954384:C:T (self)
ss1507406, ss3239645, ss98361177, ss105975397, ss143105521, ss156453492, ss159890309 NT_007592.15:2894618:C:T NC_000006.12:2954384:C:T (self)
ss15409664, ss22465368 NT_034880.3:2894617:C:T NC_000006.12:2954384: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 rs1040858

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