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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.

rs5988

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:6151904 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.212173 (56160/264690, TOPMED)
G=0.209277 (52498/250854, GnomAD_exome)
G=0.214668 (30066/140058, GnomAD) (+ 23 more)
G=0.208702 (25240/120938, ExAC)
G=0.226429 (26134/115418, ALFA)
G=0.19237 (15139/78698, PAGE_STUDY)
G=0.11710 (3309/28258, 14KJPN)
G=0.11575 (1940/16760, 8.3KJPN)
G=0.22174 (2884/13006, GO-ESP)
G=0.1982 (1269/6404, 1000G_30x)
G=0.1939 (971/5008, 1000G)
G=0.2009 (900/4480, Estonian)
G=0.2395 (923/3854, ALSPAC)
G=0.2309 (856/3708, TWINSUK)
G=0.1263 (370/2930, KOREAN)
G=0.1430 (262/1832, Korea1K)
G=0.230 (230/998, GoNL)
G=0.146 (115/790, PRJEB37584)
G=0.195 (117/600, NorthernSweden)
G=0.281 (150/534, MGP)
G=0.201 (66/328, HapMap)
G=0.171 (52/304, FINRISK)
G=0.306 (66/216, Qatari)
C=0.442 (76/172, SGDP_PRJ)
G=0.12 (5/40, GENOME_DK)
C=0.33 (6/18, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
F13A1 : Stop Gained
Publications
2 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 115418 C=0.773571 A=0.000000, G=0.226429
European Sub 97840 C=0.76884 A=0.00000, G=0.23116
African Sub 4160 C=0.8058 A=0.0000, G=0.1942
African Others Sub 162 C=0.821 A=0.000, G=0.179
African American Sub 3998 C=0.8052 A=0.0000, G=0.1948
Asian Sub 3330 C=0.8757 A=0.0000, G=0.1243
East Asian Sub 2674 C=0.8710 A=0.0000, G=0.1290
Other Asian Sub 656 C=0.895 A=0.000, G=0.105
Latin American 1 Sub 790 C=0.761 A=0.000, G=0.239
Latin American 2 Sub 946 C=0.792 A=0.000, G=0.208
South Asian Sub 274 C=0.785 A=0.000, G=0.215
Other Sub 8078 C=0.7710 A=0.0000, G=0.2290


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=0.787827 G=0.212173
gnomAD - Exomes Global Study-wide 250854 C=0.790723 G=0.209277
gnomAD - Exomes European Sub 134960 C=0.780498 G=0.219502
gnomAD - Exomes Asian Sub 48962 C=0.83162 G=0.16838
gnomAD - Exomes American Sub 34516 C=0.79456 G=0.20544
gnomAD - Exomes African Sub 16236 C=0.79330 G=0.20670
gnomAD - Exomes Ashkenazi Jewish Sub 10058 C=0.72002 G=0.27998
gnomAD - Exomes Other Sub 6122 C=0.7767 G=0.2233
gnomAD - Genomes Global Study-wide 140058 C=0.785332 G=0.214668
gnomAD - Genomes European Sub 75868 C=0.77669 G=0.22331
gnomAD - Genomes African Sub 41960 C=0.79602 G=0.20398
gnomAD - Genomes American Sub 13636 C=0.78527 G=0.21473
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.7377 G=0.2623
gnomAD - Genomes East Asian Sub 3124 C=0.8995 G=0.1005
gnomAD - Genomes Other Sub 2150 C=0.7898 G=0.2102
ExAC Global Study-wide 120938 C=0.791298 G=0.208702
ExAC Europe Sub 73136 C=0.77713 G=0.22287
ExAC Asian Sub 25080 C=0.82823 G=0.17177
ExAC American Sub 11476 C=0.79871 G=0.20129
ExAC African Sub 10338 C=0.79251 G=0.20749
ExAC Other Sub 908 C=0.805 G=0.195
Allele Frequency Aggregator Total Global 115418 C=0.773571 A=0.000000, G=0.226429
Allele Frequency Aggregator European Sub 97840 C=0.76884 A=0.00000, G=0.23116
Allele Frequency Aggregator Other Sub 8078 C=0.7710 A=0.0000, G=0.2290
Allele Frequency Aggregator African Sub 4160 C=0.8058 A=0.0000, G=0.1942
Allele Frequency Aggregator Asian Sub 3330 C=0.8757 A=0.0000, G=0.1243
Allele Frequency Aggregator Latin American 2 Sub 946 C=0.792 A=0.000, G=0.208
Allele Frequency Aggregator Latin American 1 Sub 790 C=0.761 A=0.000, G=0.239
Allele Frequency Aggregator South Asian Sub 274 C=0.785 A=0.000, G=0.215
The PAGE Study Global Study-wide 78698 C=0.80763 G=0.19237
The PAGE Study AfricanAmerican Sub 32514 C=0.79787 G=0.20213
The PAGE Study Mexican Sub 10810 C=0.78159 G=0.21841
The PAGE Study Asian Sub 8318 C=0.8970 G=0.1030
The PAGE Study PuertoRican Sub 7918 C=0.7866 G=0.2134
The PAGE Study NativeHawaiian Sub 4532 C=0.8857 G=0.1143
The PAGE Study Cuban Sub 4230 C=0.7688 G=0.2312
The PAGE Study Dominican Sub 3828 C=0.7821 G=0.2179
The PAGE Study CentralAmerican Sub 2450 C=0.7857 G=0.2143
The PAGE Study SouthAmerican Sub 1982 C=0.8042 G=0.1958
The PAGE Study NativeAmerican Sub 1260 C=0.8032 G=0.1968
The PAGE Study SouthAsian Sub 856 C=0.804 G=0.196
14KJPN JAPANESE Study-wide 28258 C=0.88290 G=0.11710
8.3KJPN JAPANESE Study-wide 16760 C=0.88425 G=0.11575
GO Exome Sequencing Project Global Study-wide 13006 C=0.77826 G=0.22174
GO Exome Sequencing Project European American Sub 8600 C=0.7671 G=0.2329
GO Exome Sequencing Project African American Sub 4406 C=0.8000 G=0.2000
1000Genomes_30x Global Study-wide 6404 C=0.8018 G=0.1982
1000Genomes_30x African Sub 1786 C=0.7699 G=0.2301
1000Genomes_30x Europe Sub 1266 C=0.7607 G=0.2393
1000Genomes_30x South Asian Sub 1202 C=0.8028 G=0.1972
1000Genomes_30x East Asian Sub 1170 C=0.9043 G=0.0957
1000Genomes_30x American Sub 980 C=0.790 G=0.210
1000Genomes Global Study-wide 5008 C=0.8061 G=0.1939
1000Genomes African Sub 1322 C=0.7708 G=0.2292
1000Genomes East Asian Sub 1008 C=0.9077 G=0.0923
1000Genomes Europe Sub 1006 C=0.7594 G=0.2406
1000Genomes South Asian Sub 978 C=0.805 G=0.195
1000Genomes American Sub 694 C=0.795 G=0.205
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7991 G=0.2009
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7605 G=0.2395
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7691 G=0.2309
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.8737 G=0.1263
Korean Genome Project KOREAN Study-wide 1832 C=0.8570 G=0.1430
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.770 G=0.230
CNV burdens in cranial meningiomas Global Study-wide 790 C=0.854 G=0.146
CNV burdens in cranial meningiomas CRM Sub 790 C=0.854 G=0.146
Northern Sweden ACPOP Study-wide 600 C=0.805 G=0.195
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.719 G=0.281
HapMap Global Study-wide 328 C=0.799 G=0.201
HapMap African Sub 120 C=0.742 G=0.258
HapMap American Sub 120 C=0.775 G=0.225
HapMap Asian Sub 88 C=0.91 G=0.09
FINRISK Finnish from FINRISK project Study-wide 304 C=0.829 G=0.171
Qatari Global Study-wide 216 C=0.694 G=0.306
SGDP_PRJ Global Study-wide 172 C=0.442 G=0.558
The Danish reference pan genome Danish Study-wide 40 C=0.88 G=0.12
Siberian Global Study-wide 18 C=0.33 G=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.6151904C>A
GRCh38.p14 chr 6 NC_000006.12:g.6151904C>G
GRCh37.p13 chr 6 NC_000006.11:g.6152137C>A
GRCh37.p13 chr 6 NC_000006.11:g.6152137C>G
F13A1 RefSeqGene (LRG_549) NG_008107.1:g.173788G>T
F13A1 RefSeqGene (LRG_549) NG_008107.1:g.173788G>C
Gene: F13A1, coagulation factor XIII A chain (minus strand)
Molecule type Change Amino acid[Codon] SO Term
F13A1 transcript NM_000129.4:c.1954G>T E [GAG] > * [TAG] Coding Sequence Variant
coagulation factor XIII A chain NP_000120.2:p.Glu652Ter E (Glu) > * (Ter) Stop Gained
F13A1 transcript NM_000129.4:c.1954G>C E [GAG] > Q [CAG] Coding Sequence Variant
coagulation factor XIII A chain NP_000120.2:p.Glu652Gln E (Glu) > Q (Gln) Missense 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: G (allele ID: 252445 )
ClinVar Accession Disease Names Clinical Significance
RCV000244287.1 not specified Benign
RCV000390947.5 Factor XIII, A subunit, deficiency of Benign
RCV001696188.1 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 C= A G
GRCh38.p14 chr 6 NC_000006.12:g.6151904= NC_000006.12:g.6151904C>A NC_000006.12:g.6151904C>G
GRCh37.p13 chr 6 NC_000006.11:g.6152137= NC_000006.11:g.6152137C>A NC_000006.11:g.6152137C>G
F13A1 RefSeqGene (LRG_549) NG_008107.1:g.173788= NG_008107.1:g.173788G>T NG_008107.1:g.173788G>C
F13A1 transcript NM_000129.4:c.1954= NM_000129.4:c.1954G>T NM_000129.4:c.1954G>C
F13A1 transcript NM_000129.3:c.1954= NM_000129.3:c.1954G>T NM_000129.3:c.1954G>C
coagulation factor XIII A chain NP_000120.2:p.Glu652= NP_000120.2:p.Glu652Ter NP_000120.2:p.Glu652Gln
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#.

136 SubSNP, 26 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF-CSNP ss7598 Sep 19, 2000 (52)
2 LEE ss1525732 Oct 04, 2000 (86)
3 YUSUKE ss3210154 Sep 28, 2001 (100)
4 PGA-UW-FHCRC ss4250338 Jan 04, 2002 (102)
5 LEE ss4416278 May 29, 2002 (106)
6 SSAHASNP ss22482281 Apr 05, 2004 (121)
7 SEQUENOM ss24796236 Sep 20, 2004 (123)
8 ABI ss42742967 Mar 13, 2006 (126)
9 APPLERA_GI ss48418735 Mar 13, 2006 (126)
10 ILLUMINA ss65728742 Oct 15, 2006 (127)
11 PERLEGEN ss68963652 May 17, 2007 (127)
12 AFFY ss74813902 Aug 16, 2007 (128)
13 SI_EXO ss76884411 Dec 07, 2007 (129)
14 HUMANGENOME_JCVI ss98363358 Feb 04, 2009 (130)
15 BGI ss104274847 Dec 01, 2009 (131)
16 1000GENOMES ss109721339 Jan 24, 2009 (130)
17 ENSEMBL ss142785434 Dec 01, 2009 (131)
18 GMI ss156484764 Dec 01, 2009 (131)
19 SEATTLESEQ ss159711175 Dec 01, 2009 (131)
20 ILLUMINA ss160755139 Dec 01, 2009 (131)
21 ILLUMINA ss173957249 Jul 04, 2010 (132)
22 BUSHMAN ss201371224 Jul 04, 2010 (132)
23 1000GENOMES ss222187246 Jul 14, 2010 (132)
24 1000GENOMES ss233307583 Jul 14, 2010 (132)
25 1000GENOMES ss240396514 Jul 15, 2010 (132)
26 ILLUMINA ss244303992 Jul 04, 2010 (132)
27 GMI ss278637304 May 04, 2012 (137)
28 GMI ss285332069 Apr 25, 2013 (138)
29 NHLBI-ESP ss342200562 May 09, 2011 (134)
30 ILLUMINA ss482195116 Sep 08, 2015 (146)
31 1000GENOMES ss490918938 May 04, 2012 (137)
32 EXOME_CHIP ss491377303 May 04, 2012 (137)
33 CLINSEQ_SNP ss491880257 May 04, 2012 (137)
34 ILLUMINA ss535922595 Sep 08, 2015 (146)
35 TISHKOFF ss558978506 Apr 25, 2013 (138)
36 SSMP ss652888142 Apr 25, 2013 (138)
37 ILLUMINA ss780845220 Aug 21, 2014 (142)
38 ILLUMINA ss783528744 Aug 21, 2014 (142)
39 JMKIDD_LAB ss974458731 Aug 21, 2014 (142)
40 EVA-GONL ss982543262 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1067475060 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1073350817 Aug 21, 2014 (142)
43 1000GENOMES ss1318817770 Aug 21, 2014 (142)
44 DDI ss1430624960 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1581515600 Apr 01, 2015 (144)
46 EVA_FINRISK ss1584043554 Apr 01, 2015 (144)
47 EVA_DECODE ss1592090035 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1614866604 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1657860637 Apr 01, 2015 (144)
50 EVA_EXAC ss1688146746 Apr 01, 2015 (144)
51 EVA_MGP ss1711111115 Apr 01, 2015 (144)
52 ILLUMINA ss1752643566 Sep 08, 2015 (146)
53 HAMMER_LAB ss1804262729 Sep 08, 2015 (146)
54 ILLUMINA ss1917798926 Feb 12, 2016 (147)
55 WEILL_CORNELL_DGM ss1925801790 Feb 12, 2016 (147)
56 ILLUMINA ss1946166412 Feb 12, 2016 (147)
57 ILLUMINA ss1958859263 Feb 12, 2016 (147)
58 JJLAB ss2023515987 Sep 14, 2016 (149)
59 USC_VALOUEV ss2151678224 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2281464078 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2626245869 Nov 08, 2017 (151)
62 GRF ss2707263803 Nov 08, 2017 (151)
63 GNOMAD ss2735521135 Nov 08, 2017 (151)
64 GNOMAD ss2747541469 Nov 08, 2017 (151)
65 GNOMAD ss2835360287 Nov 08, 2017 (151)
66 AFFY ss2985352302 Nov 08, 2017 (151)
67 SWEGEN ss2998452353 Nov 08, 2017 (151)
68 ILLUMINA ss3022570827 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3025542129 Nov 08, 2017 (151)
70 CSHL ss3346817869 Nov 08, 2017 (151)
71 ILLUMINA ss3629434643 Oct 12, 2018 (152)
72 ILLUMINA ss3629434644 Oct 12, 2018 (152)
73 ILLUMINA ss3635042373 Oct 12, 2018 (152)
74 ILLUMINA ss3636757020 Oct 12, 2018 (152)
75 ILLUMINA ss3638604633 Oct 12, 2018 (152)
76 ILLUMINA ss3640749668 Oct 12, 2018 (152)
77 ILLUMINA ss3644899476 Oct 12, 2018 (152)
78 OMUKHERJEE_ADBS ss3646330342 Oct 12, 2018 (152)
79 URBANLAB ss3648260003 Oct 12, 2018 (152)
80 ILLUMINA ss3653078704 Oct 12, 2018 (152)
81 ILLUMINA ss3654120582 Oct 12, 2018 (152)
82 EGCUT_WGS ss3666376089 Jul 13, 2019 (153)
83 EVA_DECODE ss3716505434 Jul 13, 2019 (153)
84 ILLUMINA ss3726306857 Jul 13, 2019 (153)
85 ACPOP ss3733168154 Jul 13, 2019 (153)
86 ILLUMINA ss3744545348 Jul 13, 2019 (153)
87 ILLUMINA ss3745342484 Jul 13, 2019 (153)
88 EVA ss3764564614 Jul 13, 2019 (153)
89 PAGE_CC ss3771259625 Jul 13, 2019 (153)
90 ILLUMINA ss3772836305 Jul 13, 2019 (153)
91 PACBIO ss3785361039 Jul 13, 2019 (153)
92 PACBIO ss3790728297 Jul 13, 2019 (153)
93 PACBIO ss3795605479 Jul 13, 2019 (153)
94 KHV_HUMAN_GENOMES ss3807725791 Jul 13, 2019 (153)
95 EVA ss3824152952 Apr 26, 2020 (154)
96 EVA ss3825689208 Apr 26, 2020 (154)
97 EVA ss3829711067 Apr 26, 2020 (154)
98 EVA ss3838330268 Apr 26, 2020 (154)
99 EVA ss3843770250 Apr 26, 2020 (154)
100 SGDP_PRJ ss3863837907 Apr 26, 2020 (154)
101 KRGDB ss3910573947 Apr 26, 2020 (154)
102 KOGIC ss3958425578 Apr 26, 2020 (154)
103 FSA-LAB ss3984328152 Apr 26, 2021 (155)
104 FSA-LAB ss3984328153 Apr 26, 2021 (155)
105 EVA ss3984560808 Apr 26, 2021 (155)
106 EVA ss3986334921 Apr 26, 2021 (155)
107 EVA ss4017252959 Apr 26, 2021 (155)
108 TOPMED ss4692378451 Apr 26, 2021 (155)
109 TOMMO_GENOMICS ss5175985017 Apr 26, 2021 (155)
110 EVA ss5237019524 Apr 26, 2021 (155)
111 EVA ss5237645075 Oct 17, 2022 (156)
112 1000G_HIGH_COVERAGE ss5267263830 Oct 17, 2022 (156)
113 TRAN_CS_UWATERLOO ss5314414960 Oct 17, 2022 (156)
114 EVA ss5315118711 Oct 17, 2022 (156)
115 EVA ss5363561718 Oct 17, 2022 (156)
116 HUGCELL_USP ss5465068939 Oct 17, 2022 (156)
117 EVA ss5508335001 Oct 17, 2022 (156)
118 1000G_HIGH_COVERAGE ss5552625057 Oct 17, 2022 (156)
119 EVA ss5624154202 Oct 17, 2022 (156)
120 SANFORD_IMAGENETICS ss5624613559 Oct 17, 2022 (156)
121 SANFORD_IMAGENETICS ss5639689736 Oct 17, 2022 (156)
122 TOMMO_GENOMICS ss5713602036 Oct 17, 2022 (156)
123 EVA ss5799427333 Oct 17, 2022 (156)
124 EVA ss5800127002 Oct 17, 2022 (156)
125 YY_MCH ss5807117349 Oct 17, 2022 (156)
126 EVA ss5841739120 Oct 17, 2022 (156)
127 EVA ss5847283105 Oct 17, 2022 (156)
128 EVA ss5848079388 Oct 17, 2022 (156)
129 EVA ss5848644781 Oct 17, 2022 (156)
130 EVA ss5855185205 Oct 17, 2022 (156)
131 EVA ss5882497724 Oct 17, 2022 (156)
132 EVA ss5936529453 Oct 17, 2022 (156)
133 EVA ss5968184833 Oct 17, 2022 (156)
134 EVA ss5979768714 Oct 17, 2022 (156)
135 EVA ss5980340719 Oct 17, 2022 (156)
136 EVA ss5981232875 Oct 17, 2022 (156)
137 1000Genomes NC_000006.11 - 6152137 Oct 12, 2018 (152)
138 1000Genomes_30x NC_000006.12 - 6151904 Oct 17, 2022 (156)
139 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 6152137 Oct 12, 2018 (152)
140 Genetic variation in the Estonian population NC_000006.11 - 6152137 Oct 12, 2018 (152)
141 ExAC NC_000006.11 - 6152137 Oct 12, 2018 (152)
142 FINRISK NC_000006.11 - 6152137 Apr 26, 2020 (154)
143 The Danish reference pan genome NC_000006.11 - 6152137 Apr 26, 2020 (154)
144 gnomAD - Genomes NC_000006.12 - 6151904 Apr 26, 2021 (155)
145 gnomAD - Exomes NC_000006.11 - 6152137 Jul 13, 2019 (153)
146 GO Exome Sequencing Project NC_000006.11 - 6152137 Oct 12, 2018 (152)
147 Genome of the Netherlands Release 5 NC_000006.11 - 6152137 Apr 26, 2020 (154)
148 HapMap NC_000006.12 - 6151904 Apr 26, 2020 (154)
149 KOREAN population from KRGDB NC_000006.11 - 6152137 Apr 26, 2020 (154)
150 Korean Genome Project NC_000006.12 - 6151904 Apr 26, 2020 (154)
151 Medical Genome Project healthy controls from Spanish population NC_000006.11 - 6152137 Apr 26, 2020 (154)
152 Northern Sweden NC_000006.11 - 6152137 Jul 13, 2019 (153)
153 The PAGE Study NC_000006.12 - 6151904 Jul 13, 2019 (153)
154 CNV burdens in cranial meningiomas NC_000006.11 - 6152137 Apr 26, 2021 (155)
155 Qatari NC_000006.11 - 6152137 Apr 26, 2020 (154)
156 SGDP_PRJ NC_000006.11 - 6152137 Apr 26, 2020 (154)
157 Siberian NC_000006.11 - 6152137 Apr 26, 2020 (154)
158 8.3KJPN NC_000006.11 - 6152137 Apr 26, 2021 (155)
159 14KJPN NC_000006.12 - 6151904 Oct 17, 2022 (156)
160 TopMed NC_000006.12 - 6151904 Apr 26, 2021 (155)
161 UK 10K study - Twins NC_000006.11 - 6152137 Oct 12, 2018 (152)
162 ALFA NC_000006.12 - 6151904 Apr 26, 2021 (155)
163 ClinVar RCV000244287.1 Oct 12, 2018 (152)
164 ClinVar RCV000390947.5 Oct 17, 2022 (156)
165 ClinVar RCV001696188.1 Oct 17, 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)
rs3191130 Jul 03, 2002 (106)
rs52826565 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
6462841497 NC_000006.12:6151903:C:A NC_000006.12:6151903:C:A (self)
ss109721339, ss160755139, ss201371224, ss244303992, ss278637304, ss285332069, ss491880257, ss1592090035 NC_000006.10:6097135:C:G NC_000006.12:6151903:C:G (self)
30554321, 17009572, 12114337, 8164500, 40015, 7680539, 4656622, 611008, 7549360, 17751341, 226875, 6453019, 110183, 7843720, 15854887, 4194578, 33954324, 17009572, ss222187246, ss233307583, ss240396514, ss342200562, ss482195116, ss490918938, ss491377303, ss535922595, ss558978506, ss652888142, ss780845220, ss783528744, ss974458731, ss982543262, ss1067475060, ss1073350817, ss1318817770, ss1430624960, ss1581515600, ss1584043554, ss1614866604, ss1657860637, ss1688146746, ss1711111115, ss1752643566, ss1804262729, ss1917798926, ss1925801790, ss1946166412, ss1958859263, ss2023515987, ss2151678224, ss2626245869, ss2707263803, ss2735521135, ss2747541469, ss2835360287, ss2985352302, ss2998452353, ss3022570827, ss3346817869, ss3629434643, ss3629434644, ss3635042373, ss3636757020, ss3638604633, ss3640749668, ss3644899476, ss3646330342, ss3653078704, ss3654120582, ss3666376089, ss3733168154, ss3744545348, ss3745342484, ss3764564614, ss3772836305, ss3785361039, ss3790728297, ss3795605479, ss3824152952, ss3825689208, ss3829711067, ss3838330268, ss3863837907, ss3910573947, ss3984328152, ss3984328153, ss3984560808, ss3986334921, ss4017252959, ss5175985017, ss5315118711, ss5363561718, ss5508335001, ss5624154202, ss5624613559, ss5639689736, ss5799427333, ss5800127002, ss5841739120, ss5847283105, ss5848079388, ss5848644781, ss5936529453, ss5968184833, ss5979768714, ss5980340719, ss5981232875 NC_000006.11:6152136:C:G NC_000006.12:6151903:C:G (self)
RCV000244287.1, RCV000390947.5, RCV001696188.1, 40150992, 216003592, 3052026, 14803579, 481094, 47439140, 529756009, 6462841497, ss2281464078, ss3025542129, ss3648260003, ss3716505434, ss3726306857, ss3771259625, ss3807725791, ss3843770250, ss3958425578, ss4692378451, ss5237019524, ss5237645075, ss5267263830, ss5314414960, ss5465068939, ss5552625057, ss5713602036, ss5807117349, ss5855185205, ss5882497724 NC_000006.12:6151903:C:G NC_000006.12:6151903:C:G (self)
ss7598, ss1525732, ss3210154, ss4250338, ss4416278, ss24796236, ss42742967, ss48418735, ss65728742, ss68963652, ss74813902, ss98363358, ss104274847, ss142785434, ss156484764, ss159711175, ss173957249 NT_007592.15:6092136:C:G NC_000006.12:6151903:C:G (self)
ss22482281, ss76884411 NT_034880.3:6092135:C:G NC_000006.12:6151903:C:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs5988
PMID Title Author Year Journal
19552680 Common hemostasis and inflammation gene variants and venous thrombosis in older adults from the Cardiovascular Health Study. Reiner AP et al. 2009 Journal of thrombosis and haemostasis
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
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