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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs1321311

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr6:36655123 (GRCh38.p7) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.28205 (35416/125568, TOPMED)
A=0.2738 (8466/30922, GnomAD)
A=0.276 (1384/5008, 1000G) (+ 2 more)
A=0.243 (938/3854, ALSPAC)
A=0.245 (907/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
18 citations
Genomic View
See rs on genome
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.p7 chr 6 NC_000006.12:g.36655123C>A
GRCh37.p13 chr 6 NC_000006.11:g.36622900C>A
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.

Not Reported in ClinVar
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").

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Study Population Group Sample Size Ref Allele Alt Allele
Trans-Omics for Precision Medicine Global Study-wide 125568 C=0.71795 A=0.28205
The Genome Aggregation Database Global Study-wide 30922 C=0.7262 A=0.2738
The Genome Aggregation Database European Sub 18476 C=0.7707 A=0.2293
The Genome Aggregation Database African Sub 8712 C=0.606 A=0.394
The Genome Aggregation Database East Asian Sub 1618 C=0.816 A=0.184
The Genome Aggregation Database Other Sub 982 C=0.75 A=0.25
The Genome Aggregation Database American Sub 832 C=0.82 A=0.18
The Genome Aggregation Database Ashkenazi Jewish Sub 302 C=0.66 A=0.34
1000Genomes Global Study-wide 5008 C=0.724 A=0.276
1000Genomes African Sub 1322 C=0.589 A=0.411
1000Genomes East Asian Sub 1008 C=0.831 A=0.169
1000Genomes Europe Sub 1006 C=0.783 A=0.217
1000Genomes South Asian Sub 978 C=0.67 A=0.33
1000Genomes American Sub 694 C=0.81 A=0.19
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.757 A=0.243
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.755 A=0.245
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 Note
GRCh38.p7 chr 6 NC_000006.12:g.36655123C= NC_000006.12:g.36655123C>A
GRCh37.p13 chr 6 NC_000006.11:g.36622900C= NC_000006.11:g.36622900C>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#.

5 Frequency, 106 SubSNP submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2089927 Oct 23, 2000 (88)
2 BCM_SSAHASNP ss14305486 Dec 05, 2003 (119)
3 ABI ss44770504 Mar 14, 2006 (126)
4 KRIBB_YJKIM ss65842976 Dec 01, 2006 (127)
5 ILLUMINA ss66828955 Dec 01, 2006 (127)
6 ILLUMINA ss67064859 Dec 01, 2006 (127)
7 ILLUMINA ss67393163 Dec 01, 2006 (127)
8 ILLUMINA ss70420779 May 18, 2007 (127)
9 ILLUMINA ss70597971 May 25, 2008 (130)
10 ILLUMINA ss71142657 May 18, 2007 (127)
11 ILLUMINA ss75918442 Dec 06, 2007 (129)
12 KRIBB_YJKIM ss83718029 Dec 15, 2007 (130)
13 BCMHGSC_JDW ss93443120 Mar 24, 2008 (129)
14 BGI ss104303121 Dec 01, 2009 (131)
15 1000GENOMES ss109955790 Jan 24, 2009 (130)
16 1000GENOMES ss114215123 Jan 25, 2009 (130)
17 ILLUMINA ss121628061 Dec 01, 2009 (131)
18 ENSEMBL ss143840392 Dec 01, 2009 (131)
19 ILLUMINA ss153336135 Dec 01, 2009 (131)
20 ILLUMINA ss159249094 Dec 01, 2009 (131)
21 ILLUMINA ss160323603 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss162249871 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss163405214 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss166513463 Jul 04, 2010 (132)
25 ILLUMINA ss170318307 Jul 04, 2010 (132)
26 ILLUMINA ss172355868 Jul 04, 2010 (132)
27 BUSHMAN ss201691578 Jul 04, 2010 (132)
28 1000GENOMES ss222335857 Jul 14, 2010 (132)
29 1000GENOMES ss233430369 Jul 14, 2010 (132)
30 1000GENOMES ss240495627 Jul 15, 2010 (132)
31 PAGE_STUDY ss469415521 May 04, 2012 (137)
32 ILLUMINA ss479888965 May 04, 2012 (137)
33 ILLUMINA ss479896921 May 04, 2012 (137)
34 ILLUMINA ss480511085 Sep 08, 2015 (146)
35 ILLUMINA ss484742969 May 04, 2012 (137)
36 EXOME_CHIP ss491385081 May 04, 2012 (137)
37 ILLUMINA ss536839018 Sep 08, 2015 (146)
38 TISHKOFF ss559141111 Apr 25, 2013 (138)
39 SSMP ss653078054 Apr 25, 2013 (138)
40 ILLUMINA ss778423061 Sep 08, 2015 (146)
41 ILLUMINA ss780681743 Sep 08, 2015 (146)
42 ILLUMINA ss782818170 Sep 08, 2015 (146)
43 ILLUMINA ss783355072 Sep 08, 2015 (146)
44 ILLUMINA ss783783294 Sep 08, 2015 (146)
45 ILLUMINA ss825390053 Apr 01, 2015 (144)
46 ILLUMINA ss832071488 Sep 08, 2015 (146)
47 ILLUMINA ss833878441 Sep 08, 2015 (146)
48 EVA-GONL ss982821798 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1073535225 Aug 21, 2014 (142)
50 1000GENOMES ss1319712834 Aug 21, 2014 (142)
51 DDI ss1430689672 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1581629521 Apr 01, 2015 (144)
53 EVA_DECODE ss1592355424 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1615354459 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1658348492 Apr 01, 2015 (144)
56 EVA_SVP ss1712855374 Apr 01, 2015 (144)
57 ILLUMINA ss1752634521 Sep 08, 2015 (146)
58 ILLUMINA ss1752634522 Sep 08, 2015 (146)
59 HAMMER_LAB ss1804382601 Sep 08, 2015 (146)
60 ILLUMINA ss1917804814 Feb 12, 2016 (147)
61 WEILL_CORNELL_DGM ss1926078432 Feb 12, 2016 (147)
62 ILLUMINA ss1946176577 Feb 12, 2016 (147)
63 ILLUMINA ss1946176578 Feb 12, 2016 (147)
64 ILLUMINA ss1958900470 Feb 12, 2016 (147)
65 ILLUMINA ss1958900471 Feb 12, 2016 (147)
66 GENOMED ss1970372159 Jul 19, 2016 (147)
67 JJLAB ss2023676662 Sep 14, 2016 (149)
68 ILLUMINA ss2094827626 Dec 20, 2016 (150)
69 ILLUMINA ss2095182939 Dec 20, 2016 (150)
70 USC_VALOUEV ss2151853858 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2283220770 Dec 20, 2016 (150)
72 TOPMED ss2451599561 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2626326625 Nov 08, 2017 (151)
74 ILLUMINA ss2634439580 Nov 08, 2017 (151)
75 ILLUMINA ss2634439581 Nov 08, 2017 (151)
76 ILLUMINA ss2634439582 Nov 08, 2017 (151)
77 GRF ss2707450928 Nov 08, 2017 (151)
78 ILLUMINA ss2711075577 Nov 08, 2017 (151)
79 GNOMAD ss2837833972 Nov 08, 2017 (151)
80 AFFY ss2985366014 Nov 08, 2017 (151)
81 AFFY ss2985998344 Nov 08, 2017 (151)
82 SWEGEN ss2998897159 Nov 08, 2017 (151)
83 ILLUMINA ss3022611639 Nov 08, 2017 (151)
84 ILLUMINA ss3022611640 Nov 08, 2017 (151)
85 BIOINF_KMB_FNS_UNIBA ss3025629861 Nov 08, 2017 (151)
86 CSHL ss3346913942 Nov 08, 2017 (151)
87 TOPMED ss3494758682 Nov 08, 2017 (151)
88 ILLUMINA ss3625899531 Jul 20, 2018 (151)
89 ILLUMINA ss3629523612 Jul 20, 2018 (151)
90 ILLUMINA ss3629523613 Jul 20, 2018 (151)
91 ILLUMINA ss3632357022 Jul 20, 2018 (151)
92 ILLUMINA ss3633418536 Jul 20, 2018 (151)
93 ILLUMINA ss3634141259 Jul 20, 2018 (151)
94 ILLUMINA ss3635062726 Jul 20, 2018 (151)
95 ILLUMINA ss3635062727 Jul 20, 2018 (151)
96 ILLUMINA ss3635822146 Jul 20, 2018 (151)
97 ILLUMINA ss3636785206 Jul 20, 2018 (151)
98 ILLUMINA ss3637574954 Jul 20, 2018 (151)
99 ILLUMINA ss3638624714 Jul 20, 2018 (151)
100 ILLUMINA ss3639312796 Jul 20, 2018 (151)
101 ILLUMINA ss3639682008 Jul 20, 2018 (151)
102 ILLUMINA ss3640770025 Jul 20, 2018 (151)
103 ILLUMINA ss3640770026 Jul 20, 2018 (151)
104 ILLUMINA ss3643566181 Jul 20, 2018 (151)
105 ILLUMINA ss3644909620 Jul 20, 2018 (151)
106 ILLUMINA ss3644909621 Jul 20, 2018 (151)
107 1000Genomes NC_000006.11 - 36622900 Jul 20, 2018 (151)
108 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 36622900 Jul 20, 2018 (151)
109 The Genome Aggregation Database NC_000006.11 - 36622900 Jul 20, 2018 (151)
110 Trans-Omics for Precision Medicine NC_000006.12 - 36655123 Jul 20, 2018 (151)
111 UK 10K study - Twins NC_000006.11 - 36622900 Jul 20, 2018 (151)
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)
rs59148954 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss3639312796, ss3639682008 NC_000006.9:36730877:C= NC_000006.12:36655122:C=
ss93443120, ss109955790, ss114215123, ss162249871, ss163405214, ss166513463, ss201691578, ss479888965, ss825390053, ss1592355424, ss1712855374, ss3643566181 NC_000006.10:36730877:C= NC_000006.12:36655122:C= (self)
31486451, 17553030, 178461729, 17553030, ss222335857, ss233430369, ss240495627, ss479896921, ss480511085, ss484742969, ss491385081, ss536839018, ss559141111, ss653078054, ss778423061, ss780681743, ss782818170, ss783355072, ss783783294, ss832071488, ss833878441, ss982821798, ss1073535225, ss1319712834, ss1430689672, ss1581629521, ss1615354459, ss1658348492, ss1752634521, ss1752634522, ss1804382601, ss1917804814, ss1926078432, ss1946176577, ss1946176578, ss1958900470, ss1958900471, ss1970372159, ss2023676662, ss2094827626, ss2095182939, ss2151853858, ss2451599561, ss2626326625, ss2634439580, ss2634439581, ss2634439582, ss2707450928, ss2711075577, ss2837833972, ss2985366014, ss2985998344, ss2998897159, ss3022611639, ss3022611640, ss3346913942, ss3625899531, ss3629523612, ss3629523613, ss3632357022, ss3633418536, ss3634141259, ss3635062726, ss3635062727, ss3635822146, ss3636785206, ss3637574954, ss3638624714, ss3640770025, ss3640770026, ss3644909620, ss3644909621 NC_000006.11:36622899:C= NC_000006.12:36655122:C= (self)
335720729, ss2283220770, ss3025629861, ss3494758682 NC_000006.12:36655122:C= NC_000006.12:36655122:C= (self)
ss14305486 NT_007592.13:27420026:C= NC_000006.12:36655122:C= (self)
ss2089927, ss44770504, ss65842976, ss66828955, ss67064859, ss67393163, ss70420779, ss70597971, ss71142657, ss75918442, ss83718029, ss104303121, ss121628061, ss143840392, ss153336135, ss159249094, ss160323603, ss170318307, ss172355868, ss469415521 NT_007592.15:36562899:C= NC_000006.12:36655122:C= (self)
ss3639312796, ss3639682008 NC_000006.9:36730877:C>A NC_000006.12:36655122:C>A
ss93443120, ss109955790, ss114215123, ss162249871, ss163405214, ss166513463, ss201691578, ss479888965, ss825390053, ss1592355424, ss1712855374, ss3643566181 NC_000006.10:36730877:C>A NC_000006.12:36655122:C>A (self)
31486451, 17553030, 178461729, 17553030, ss222335857, ss233430369, ss240495627, ss479896921, ss480511085, ss484742969, ss491385081, ss536839018, ss559141111, ss653078054, ss778423061, ss780681743, ss782818170, ss783355072, ss783783294, ss832071488, ss833878441, ss982821798, ss1073535225, ss1319712834, ss1430689672, ss1581629521, ss1615354459, ss1658348492, ss1752634521, ss1752634522, ss1804382601, ss1917804814, ss1926078432, ss1946176577, ss1946176578, ss1958900470, ss1958900471, ss1970372159, ss2023676662, ss2094827626, ss2095182939, ss2151853858, ss2451599561, ss2626326625, ss2634439580, ss2634439581, ss2634439582, ss2707450928, ss2711075577, ss2837833972, ss2985366014, ss2985998344, ss2998897159, ss3022611639, ss3022611640, ss3346913942, ss3625899531, ss3629523612, ss3629523613, ss3632357022, ss3633418536, ss3634141259, ss3635062726, ss3635062727, ss3635822146, ss3636785206, ss3637574954, ss3638624714, ss3640770025, ss3640770026, ss3644909620, ss3644909621 NC_000006.11:36622899:C>A NC_000006.12:36655122:C>A (self)
335720729, ss2283220770, ss3025629861, ss3494758682 NC_000006.12:36655122:C>A NC_000006.12:36655122:C>A (self)
ss14305486 NT_007592.13:27420026:C>A NC_000006.12:36655122:C>A (self)
ss2089927, ss44770504, ss65842976, ss66828955, ss67064859, ss67393163, ss70420779, ss70597971, ss71142657, ss75918442, ss83718029, ss104303121, ss121628061, ss143840392, ss153336135, ss159249094, ss160323603, ss170318307, ss172355868, ss469415521 NT_007592.15:36562899:C>A NC_000006.12:36655122:C>A (self)
Help

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

18 citations for rs1321311
PMID Title Author Year Journal
21076409 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Sotoodehnia N et al. 2010 Nature genetics
22634755 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk. Dunlop MG et al. 2012 Nature genetics
23946381 Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Ma X et al. 2014 Gut
24587672 New genes emerging for colorectal cancer predisposition. Esteban-Jurado C et al. 2014 World journal of gastroenterology
24705330 Architecture of inherited susceptibility to colorectal cancer: a voyage of discovery. Whiffin N et al. 2014 Genes
24764655 Genetic variations in colorectal cancer risk and clinical outcome. Zhang K et al. 2014 World journal of gastroenterology
24846176 Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart. Koopmann TT et al. 2014 PloS one
24994789 Gene-environment interaction involving recently identified colorectal cancer susceptibility Loci. Kantor ED et al. 2014 Cancer epidemiology, biomarkers & prevention
25799222 Association between GWAS-identified genetic variations and disease prognosis for patients with colorectal cancer. Kang BW et al. 2015 PloS one
26078566 Association of colorectal cancer susceptibility variants with esophageal cancer in a Chinese population. Geng TT et al. 2015 World journal of gastroenterology
27078840 Genetic Variants Associated with Colorectal Adenoma Susceptibility. Abulí A et al. 2016 PloS one
27079684 Genome-wide association studies and epigenome-wide association studies go together in cancer control. Verma M et al. 2016 Future oncology (London, England)
27146020 Colorectal cancer risk genes are functionally enriched in regulatory pathways. Lu X et al. 2016 Scientific reports
27379672 Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants. Du M et al. 2016 PloS one
27630819 Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data. Dunkhase E et al. 2016 Genomics data
27765935 Gene polymorphisms are associated with clinical outcome in Chinese resected laryngeal carcinoma patients. Chen P et al. 2016 Oncotarget
28233817 Risk Model for Colorectal Cancer in Spanish Population Using Environmental and Genetic Factors: Results from the MCC-Spain study. Ibáñez-Sanz G et al. 2017 Scientific reports
29147930 SNP association study in PMS2-associated Lynch syndrome. Ten Broeke SW et al. 2018 Familial cancer

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: 0.1.4.post833+d3ba21e