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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.

rs139196998

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:6057965 (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
A=0.000434 (77/177518, ALFA)
A=0.00225 (177/78700, PAGE_STUDY)
A=0.00008 (1/13004, GO-ESP) (+ 4 more)
A=0.0005 (3/6404, 1000G_30x)
A=0.0006 (3/5008, 1000G)
A=0.0147 (43/2916, KOREAN)
A=0.004 (3/792, PRJEB37584)
Clinical Significance
Reported in ClinVar
Gene : Consequence
VWF : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 177640 G=0.999555 A=0.000439, C=0.000000, T=0.000006
European Sub 153010 G=0.999882 A=0.000118, C=0.000000, T=0.000000
African Sub 4900 G=0.9996 A=0.0002, C=0.0000, T=0.0002
African Others Sub 176 G=1.000 A=0.000, C=0.000, T=0.000
African American Sub 4724 G=0.9996 A=0.0002, C=0.0000, T=0.0002
Asian Sub 6344 G=0.9924 A=0.0076, C=0.0000, T=0.0000
East Asian Sub 4498 G=0.9904 A=0.0096, C=0.0000, T=0.0000
Other Asian Sub 1846 G=0.9973 A=0.0027, C=0.0000, T=0.0000
Latin American 1 Sub 442 G=1.000 A=0.000, C=0.000, T=0.000
Latin American 2 Sub 948 G=1.000 A=0.000, C=0.000, T=0.000
South Asian Sub 280 G=0.996 A=0.004, C=0.000, T=0.000
Other Sub 11716 G=0.99915 A=0.00085, C=0.00000, T=0.00000


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
Allele Frequency Aggregator Total Global 177518 G=0.999561 A=0.000434, C=0.000000, T=0.000006
Allele Frequency Aggregator European Sub 152906 G=0.999882 A=0.000118, C=0.000000, T=0.000000
Allele Frequency Aggregator Other Sub 11712 G=0.99915 A=0.00085, C=0.00000, T=0.00000
Allele Frequency Aggregator Asian Sub 6344 G=0.9924 A=0.0076, C=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 4886 G=0.9998 A=0.0000, C=0.0000, T=0.0002
Allele Frequency Aggregator Latin American 2 Sub 948 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 442 G=1.000 A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 280 G=0.996 A=0.004, C=0.000, T=0.000
The PAGE Study Global Study-wide 78700 G=0.99775 A=0.00225
The PAGE Study AfricanAmerican Sub 32516 G=0.99985 A=0.00015
The PAGE Study Mexican Sub 10810 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=0.9808 A=0.0192
The PAGE Study PuertoRican Sub 7918 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=0.9978 A=0.0022
The PAGE Study Cuban Sub 4228 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=0.9997 A=0.0003
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=0.999 A=0.001
GO Exome Sequencing Project Global Study-wide 13004 G=0.99992 A=0.00008
GO Exome Sequencing Project European American Sub 8598 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4406 G=0.9998 A=0.0002
1000Genomes_30x Global Study-wide 6404 G=0.9992 A=0.0005, C=0.0003
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000, C=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000, C=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000, C=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.9974 A=0.0026, C=0.0000
1000Genomes_30x American Sub 980 G=0.998 A=0.000, C=0.002
1000Genomes Global Study-wide 5008 G=0.9994 A=0.0006
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9970 A=0.0030
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
KOREAN population from KRGDB KOREAN Study-wide 2916 G=0.9853 A=0.0147
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.996 A=0.004
CNV burdens in cranial meningiomas CRM Sub 792 G=0.996 A=0.004
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 12 NC_000012.12:g.6057965G>A
GRCh38.p14 chr 12 NC_000012.12:g.6057965G>C
GRCh38.p14 chr 12 NC_000012.12:g.6057965G>T
GRCh37.p13 chr 12 NC_000012.11:g.6167131G>A
GRCh37.p13 chr 12 NC_000012.11:g.6167131G>C
GRCh37.p13 chr 12 NC_000012.11:g.6167131G>T
VWF RefSeqGene (LRG_587) NG_009072.2:g.71706C>T
VWF RefSeqGene (LRG_587) NG_009072.2:g.71706C>G
VWF RefSeqGene (LRG_587) NG_009072.2:g.71706C>A
Gene: VWF, von Willebrand factor (minus strand)
Molecule type Change Amino acid[Codon] SO Term
VWF transcript NM_000552.5:c.1613C>T P [CCC] > L [CTC] Coding Sequence Variant
von Willebrand factor preproprotein NP_000543.3:p.Pro538Leu P (Pro) > L (Leu) Missense Variant
VWF transcript NM_000552.5:c.1613C>G P [CCC] > R [CGC] Coding Sequence Variant
von Willebrand factor preproprotein NP_000543.3:p.Pro538Arg P (Pro) > R (Arg) Missense Variant
VWF transcript NM_000552.5:c.1613C>A P [CCC] > H [CAC] Coding Sequence Variant
von Willebrand factor preproprotein NP_000543.3:p.Pro538His P (Pro) > H (His) Missense Variant
VWF transcript variant X1 XM_047429501.1:c.1613C>T P [CCC] > L [CTC] Coding Sequence Variant
von Willebrand factor isoform X1 XP_047285457.1:p.Pro538Leu P (Pro) > L (Leu) Missense Variant
VWF transcript variant X1 XM_047429501.1:c.1613C>G P [CCC] > R [CGC] Coding Sequence Variant
von Willebrand factor isoform X1 XP_047285457.1:p.Pro538Arg P (Pro) > R (Arg) Missense Variant
VWF transcript variant X1 XM_047429501.1:c.1613C>A P [CCC] > H [CAC] Coding Sequence Variant
von Willebrand factor isoform X1 XP_047285457.1:p.Pro538His P (Pro) > H (His) 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: A (allele ID: 789537 )
ClinVar Accession Disease Names Clinical Significance
RCV000986060.9 not provided Uncertain-Significance
Allele: C (allele ID: 1329291 )
ClinVar Accession Disease Names Clinical Significance
RCV001817654.3 not specified Uncertain-Significance
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 12 NC_000012.12:g.6057965= NC_000012.12:g.6057965G>A NC_000012.12:g.6057965G>C NC_000012.12:g.6057965G>T
GRCh37.p13 chr 12 NC_000012.11:g.6167131= NC_000012.11:g.6167131G>A NC_000012.11:g.6167131G>C NC_000012.11:g.6167131G>T
VWF RefSeqGene (LRG_587) NG_009072.2:g.71706= NG_009072.2:g.71706C>T NG_009072.2:g.71706C>G NG_009072.2:g.71706C>A
VWF transcript NM_000552.5:c.1613= NM_000552.5:c.1613C>T NM_000552.5:c.1613C>G NM_000552.5:c.1613C>A
VWF transcript NM_000552.4:c.1613= NM_000552.4:c.1613C>T NM_000552.4:c.1613C>G NM_000552.4:c.1613C>A
VWF transcript NM_000552.3:c.1613= NM_000552.3:c.1613C>T NM_000552.3:c.1613C>G NM_000552.3:c.1613C>A
VWF transcript variant X1 XM_047429501.1:c.1613= XM_047429501.1:c.1613C>T XM_047429501.1:c.1613C>G XM_047429501.1:c.1613C>A
von Willebrand factor preproprotein NP_000543.3:p.Pro538= NP_000543.3:p.Pro538Leu NP_000543.3:p.Pro538Arg NP_000543.3:p.Pro538His
von Willebrand factor isoform X1 XP_047285457.1:p.Pro538= XP_047285457.1:p.Pro538Leu XP_047285457.1:p.Pro538Arg XP_047285457.1:p.Pro538His
von Willebrand factor preproprotein NP_000543.2:p.Pro538= NP_000543.2:p.Pro538Leu NP_000543.2:p.Pro538Arg NP_000543.2:p.Pro538His
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#.

52 SubSNP, 23 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342347604 May 09, 2011 (134)
2 1000GENOMES ss462672259 Sep 17, 2011 (135)
3 1000GENOMES ss491035004 May 04, 2012 (137)
4 EXOME_CHIP ss491462990 May 04, 2012 (137)
5 ILLUMINA ss780907091 Sep 08, 2015 (146)
6 ILLUMINA ss783594502 Sep 08, 2015 (146)
7 1000GENOMES ss1343852876 Aug 21, 2014 (142)
8 EVA_EXAC ss1690751933 Apr 01, 2015 (144)
9 EVA_EXAC ss1690751934 Apr 01, 2015 (144)
10 EVA_EXAC ss1690751935 Apr 01, 2015 (144)
11 ILLUMINA ss1752075971 Sep 08, 2015 (146)
12 ILLUMINA ss1917869758 Feb 12, 2016 (147)
13 ILLUMINA ss1946329775 Feb 12, 2016 (147)
14 ILLUMINA ss1959408974 Feb 12, 2016 (147)
15 HUMAN_LONGEVITY ss2187512274 Dec 20, 2016 (150)
16 GRF ss2699667067 Nov 08, 2017 (151)
17 GNOMAD ss2739572684 Nov 08, 2017 (151)
18 GNOMAD ss2748795376 Nov 08, 2017 (151)
19 GNOMAD ss2906912753 Nov 08, 2017 (151)
20 AFFY ss2984965912 Nov 08, 2017 (151)
21 ILLUMINA ss3021401869 Nov 08, 2017 (151)
22 ILLUMINA ss3626806950 Oct 12, 2018 (152)
23 ILLUMINA ss3634488538 Oct 12, 2018 (152)
24 ILLUMINA ss3640195872 Oct 12, 2018 (152)
25 ILLUMINA ss3644582714 Oct 12, 2018 (152)
26 ILLUMINA ss3651773855 Oct 12, 2018 (152)
27 ILLUMINA ss3653738201 Oct 12, 2018 (152)
28 ILLUMINA ss3725299576 Jul 13, 2019 (153)
29 ILLUMINA ss3744391027 Jul 13, 2019 (153)
30 ILLUMINA ss3744789263 Jul 13, 2019 (153)
31 EVA ss3750094754 Jul 13, 2019 (153)
32 PAGE_CC ss3771671454 Jul 13, 2019 (153)
33 ILLUMINA ss3772288861 Jul 13, 2019 (153)
34 EVA ss3824697017 Apr 26, 2020 (154)
35 KRGDB ss3926103986 Apr 26, 2020 (154)
36 EVA ss3984661607 Apr 26, 2021 (155)
37 EVA ss3986555871 Apr 26, 2021 (155)
38 TOPMED ss4907440400 Apr 26, 2021 (155)
39 TOPMED ss4907440401 Apr 26, 2021 (155)
40 TOPMED ss4907440402 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5204884045 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5204884046 Apr 26, 2021 (155)
43 1000G_HIGH_COVERAGE ss5289671328 Oct 16, 2022 (156)
44 1000G_HIGH_COVERAGE ss5289671329 Oct 16, 2022 (156)
45 EVA ss5315597481 Oct 16, 2022 (156)
46 EVA ss5403684722 Oct 16, 2022 (156)
47 1000G_HIGH_COVERAGE ss5586531934 Oct 16, 2022 (156)
48 TOMMO_GENOMICS ss5753622310 Oct 16, 2022 (156)
49 TOMMO_GENOMICS ss5753622311 Oct 16, 2022 (156)
50 EVA ss5847658318 Oct 16, 2022 (156)
51 EVA ss5903140961 Oct 16, 2022 (156)
52 EVA ss5943862840 Oct 16, 2022 (156)
53 1000Genomes NC_000012.11 - 6167131 Oct 12, 2018 (152)
54 1000Genomes_30x NC_000012.12 - 6057965 Oct 16, 2022 (156)
55 ExAC

Submission ignored due to conflicting rows:
Row 1036254 (NC_000012.11:6167130:G:G 119179/119224, NC_000012.11:6167130:G:A 45/119224)
Row 1036255 (NC_000012.11:6167130:G:G 119208/119224, NC_000012.11:6167130:G:C 16/119224)
Row 1036256 (NC_000012.11:6167130:G:G 119222/119224, NC_000012.11:6167130:G:T 2/119224)

- Oct 12, 2018 (152)
56 ExAC

Submission ignored due to conflicting rows:
Row 1036254 (NC_000012.11:6167130:G:G 119179/119224, NC_000012.11:6167130:G:A 45/119224)
Row 1036255 (NC_000012.11:6167130:G:G 119208/119224, NC_000012.11:6167130:G:C 16/119224)
Row 1036256 (NC_000012.11:6167130:G:G 119222/119224, NC_000012.11:6167130:G:T 2/119224)

- Oct 12, 2018 (152)
57 ExAC

Submission ignored due to conflicting rows:
Row 1036254 (NC_000012.11:6167130:G:G 119179/119224, NC_000012.11:6167130:G:A 45/119224)
Row 1036255 (NC_000012.11:6167130:G:G 119208/119224, NC_000012.11:6167130:G:C 16/119224)
Row 1036256 (NC_000012.11:6167130:G:G 119222/119224, NC_000012.11:6167130:G:T 2/119224)

- Oct 12, 2018 (152)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 398190406 (NC_000012.12:6057964:G:A 33/140292)
Row 398190407 (NC_000012.12:6057964:G:C 10/140294)
Row 398190408 (NC_000012.12:6057964:G:T 7/140294)

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

Submission ignored due to conflicting rows:
Row 398190406 (NC_000012.12:6057964:G:A 33/140292)
Row 398190407 (NC_000012.12:6057964:G:C 10/140294)
Row 398190408 (NC_000012.12:6057964:G:T 7/140294)

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

Submission ignored due to conflicting rows:
Row 398190406 (NC_000012.12:6057964:G:A 33/140292)
Row 398190407 (NC_000012.12:6057964:G:C 10/140294)
Row 398190408 (NC_000012.12:6057964:G:T 7/140294)

- Apr 26, 2021 (155)
61 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 8796990 (NC_000012.11:6167130:G:G 250521/250620, NC_000012.11:6167130:G:A 99/250620)
Row 8796991 (NC_000012.11:6167130:G:G 250575/250620, NC_000012.11:6167130:G:C 45/250620)
Row 8796992 (NC_000012.11:6167130:G:G 250615/250620, NC_000012.11:6167130:G:T 5/250620)

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

Submission ignored due to conflicting rows:
Row 8796990 (NC_000012.11:6167130:G:G 250521/250620, NC_000012.11:6167130:G:A 99/250620)
Row 8796991 (NC_000012.11:6167130:G:G 250575/250620, NC_000012.11:6167130:G:C 45/250620)
Row 8796992 (NC_000012.11:6167130:G:G 250615/250620, NC_000012.11:6167130:G:T 5/250620)

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

Submission ignored due to conflicting rows:
Row 8796990 (NC_000012.11:6167130:G:G 250521/250620, NC_000012.11:6167130:G:A 99/250620)
Row 8796991 (NC_000012.11:6167130:G:G 250575/250620, NC_000012.11:6167130:G:C 45/250620)
Row 8796992 (NC_000012.11:6167130:G:G 250615/250620, NC_000012.11:6167130:G:T 5/250620)

- Jul 13, 2019 (153)
64 GO Exome Sequencing Project NC_000012.11 - 6167131 Oct 12, 2018 (152)
65 KOREAN population from KRGDB NC_000012.11 - 6167131 Apr 26, 2020 (154)
66 The PAGE Study NC_000012.12 - 6057965 Jul 13, 2019 (153)
67 CNV burdens in cranial meningiomas NC_000012.11 - 6167131 Apr 26, 2021 (155)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 62853352 (NC_000012.11:6167130:G:A 393/16760)
Row 62853353 (NC_000012.11:6167130:G:C 1/16760)

- Apr 26, 2021 (155)
69 8.3KJPN

Submission ignored due to conflicting rows:
Row 62853352 (NC_000012.11:6167130:G:A 393/16760)
Row 62853353 (NC_000012.11:6167130:G:C 1/16760)

- Apr 26, 2021 (155)
70 14KJPN

Submission ignored due to conflicting rows:
Row 87459414 (NC_000012.12:6057964:G:A 660/28258)
Row 87459415 (NC_000012.12:6057964:G:C 2/28258)

- Oct 16, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 87459414 (NC_000012.12:6057964:G:A 660/28258)
Row 87459415 (NC_000012.12:6057964:G:C 2/28258)

- Oct 16, 2022 (156)
72 TopMed

Submission ignored due to conflicting rows:
Row 122986057 (NC_000012.12:6057964:G:A 67/264690)
Row 122986058 (NC_000012.12:6057964:G:C 47/264690)
Row 122986059 (NC_000012.12:6057964:G:T 5/264690)

- Apr 26, 2021 (155)
73 TopMed

Submission ignored due to conflicting rows:
Row 122986057 (NC_000012.12:6057964:G:A 67/264690)
Row 122986058 (NC_000012.12:6057964:G:C 47/264690)
Row 122986059 (NC_000012.12:6057964:G:T 5/264690)

- Apr 26, 2021 (155)
74 TopMed

Submission ignored due to conflicting rows:
Row 122986057 (NC_000012.12:6057964:G:A 67/264690)
Row 122986058 (NC_000012.12:6057964:G:C 47/264690)
Row 122986059 (NC_000012.12:6057964:G:T 5/264690)

- Apr 26, 2021 (155)
75 ALFA NC_000012.12 - 6057965 Apr 26, 2021 (155)
76 ClinVar RCV000986060.9 Oct 16, 2022 (156)
77 ClinVar RCV001817654.3 Oct 16, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
56465801, 1154519, 33281380, 211098, ss342347604, ss462672259, ss491035004, ss491462990, ss780907091, ss783594502, ss1343852876, ss1690751933, ss1752075971, ss1917869758, ss1946329775, ss1959408974, ss2699667067, ss2739572684, ss2748795376, ss2906912753, ss2984965912, ss3021401869, ss3626806950, ss3634488538, ss3640195872, ss3644582714, ss3651773855, ss3653738201, ss3744391027, ss3744789263, ss3750094754, ss3772288861, ss3824697017, ss3926103986, ss3984661607, ss3986555871, ss5204884045, ss5315597481, ss5403684722, ss5847658318, ss5943862840 NC_000012.11:6167130:G:A NC_000012.12:6057964:G:A (self)
RCV000986060.9, 74057869, 892923, 11159843117, ss2187512274, ss3725299576, ss3771671454, ss4907440400, ss5289671328, ss5586531934, ss5753622310, ss5903140961 NC_000012.12:6057964:G:A NC_000012.12:6057964:G:A (self)
ss1690751934, ss2739572684, ss2748795376, ss2906912753, ss5204884046 NC_000012.11:6167130:G:C NC_000012.12:6057964:G:C (self)
RCV001817654.3, 74057869, 11159843117, ss4907440401, ss5289671329, ss5586531934, ss5753622311 NC_000012.12:6057964:G:C NC_000012.12:6057964:G:C (self)
ss1690751935, ss2739572684, ss2748795376, ss2906912753 NC_000012.11:6167130:G:T NC_000012.12:6057964:G:T (self)
11159843117, ss4907440402 NC_000012.12:6057964:G:T NC_000012.12:6057964: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 rs139196998

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