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dbSNP Short Genetic Variations

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.

rs4911414

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr20:34141638 (GRCh38.p12) 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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.26848 (33713/125568, TOPMED)
T=0.2661 (8175/30722, GnomAD)
T=0.202 (1013/5008, 1000G) (+ 3 more)
T=0.330 (1479/4480, Estonian)
T=0.368 (1420/3854, ALSPAC)
T=0.357 (1322/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
15 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.p12 chr 20 NC_000020.11:g.34141638T>G
GRCh37.p13 chr 20 NC_000020.10:g.32729444T>G
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
TopMed Global Study-wide 125568 T=0.26848 G=0.73152
gnomAD - Genomes Global Study-wide 30722 T=0.2661 G=0.7339
gnomAD - Genomes European Sub 18302 T=0.3272 G=0.6728
gnomAD - Genomes African Sub 8692 T=0.149 G=0.851
gnomAD - Genomes East Asian Sub 1618 T=0.161 G=0.839
gnomAD - Genomes Other Sub 972 T=0.27 G=0.73
gnomAD - Genomes American Sub 838 T=0.35 G=0.65
gnomAD - Genomes Ashkenazi Jewish Sub 300 T=0.23 G=0.77
1000Genomes Global Study-wide 5008 T=0.202 G=0.798
1000Genomes African Sub 1322 T=0.116 G=0.884
1000Genomes East Asian Sub 1008 T=0.175 G=0.825
1000Genomes Europe Sub 1006 T=0.300 G=0.700
1000Genomes South Asian Sub 978 T=0.15 G=0.85
1000Genomes American Sub 694 T=0.34 G=0.66
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.330 G=0.670
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.368 G=0.632
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.357 G=0.643
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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 T= G Note
GRCh38.p12 chr 20 NC_000020.11:g.34141638T= NC_000020.11:g.34141638T>G
GRCh37.p13 chr 20 NC_000020.10:g.32729444T= NC_000020.10:g.32729444T>G
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#.

105 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6788129 Feb 20, 2003 (111)
2 SC_SNP ss8372461 Apr 21, 2003 (126)
3 CSHL-HAPMAP ss16905018 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss17702623 Feb 27, 2004 (120)
5 SSAHASNP ss21802238 Apr 05, 2004 (121)
6 PERLEGEN ss46555370 Mar 10, 2006 (126)
7 ILLUMINA ss66588928 Dec 02, 2006 (127)
8 ILLUMINA ss67397618 Dec 02, 2006 (127)
9 ILLUMINA ss67768402 Dec 02, 2006 (127)
10 ILLUMINA ss70835509 May 24, 2008 (130)
11 ILLUMINA ss71418688 May 18, 2007 (127)
12 ILLUMINA ss74876040 Dec 07, 2007 (129)
13 ILLUMINA ss79202191 Dec 14, 2007 (130)
14 HGSV ss81251174 Dec 14, 2007 (130)
15 HGSV ss82141836 Dec 14, 2007 (130)
16 HGSV ss82294117 Dec 14, 2007 (130)
17 KRIBB_YJKIM ss84396340 Dec 14, 2007 (130)
18 BCMHGSC_JDW ss91687733 Mar 24, 2008 (129)
19 HUMANGENOME_JCVI ss96193893 Feb 04, 2009 (130)
20 BGI ss106186680 Feb 04, 2009 (130)
21 1000GENOMES ss111930084 Jan 25, 2009 (130)
22 1000GENOMES ss113283801 Jan 25, 2009 (130)
23 ILLUMINA-UK ss117532245 Dec 01, 2009 (131)
24 ILLUMINA ss122429120 Dec 01, 2009 (131)
25 ENSEMBL ss135724413 Dec 01, 2009 (131)
26 ILLUMINA ss154328356 Dec 01, 2009 (131)
27 GMI ss156385294 Dec 01, 2009 (131)
28 ILLUMINA ss159504877 Dec 01, 2009 (131)
29 ILLUMINA ss160727104 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss168073646 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss169498664 Jul 04, 2010 (132)
32 ILLUMINA ss171974718 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss172049978 Jul 04, 2010 (132)
34 ILLUMINA ss173871357 Jul 04, 2010 (132)
35 BUSHMAN ss203877075 Jul 04, 2010 (132)
36 BCM-HGSC-SUB ss208659179 Jul 04, 2010 (132)
37 1000GENOMES ss228333633 Jul 14, 2010 (132)
38 1000GENOMES ss237818928 Jul 15, 2010 (132)
39 1000GENOMES ss243992569 Jul 15, 2010 (132)
40 BL ss255612132 May 09, 2011 (134)
41 GMI ss283367766 May 04, 2012 (137)
42 GMI ss287452599 Apr 25, 2013 (138)
43 PJP ss292644504 May 09, 2011 (134)
44 ILLUMINA ss481097792 May 04, 2012 (137)
45 ILLUMINA ss481119814 May 04, 2012 (137)
46 ILLUMINA ss482110985 Sep 08, 2015 (146)
47 ILLUMINA ss485343982 May 04, 2012 (137)
48 ILLUMINA ss537292455 Sep 08, 2015 (146)
49 TISHKOFF ss566224247 Apr 25, 2013 (138)
50 SSMP ss662106711 Apr 25, 2013 (138)
51 ILLUMINA ss778924584 Aug 21, 2014 (142)
52 ILLUMINA ss783117739 Aug 21, 2014 (142)
53 ILLUMINA ss784074577 Aug 21, 2014 (142)
54 ILLUMINA ss825532709 Jul 19, 2016 (147)
55 ILLUMINA ss832376477 Apr 01, 2015 (144)
56 ILLUMINA ss833016219 Aug 21, 2014 (142)
57 ILLUMINA ss833607047 Aug 21, 2014 (142)
58 ILLUMINA ss834386050 Aug 21, 2014 (142)
59 EVA-GONL ss994683348 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1082177948 Aug 21, 2014 (142)
61 1000GENOMES ss1364623389 Aug 21, 2014 (142)
62 HAMMER_LAB ss1397768188 Sep 08, 2015 (146)
63 DDI ss1429044903 Apr 01, 2015 (144)
64 EVA_GENOME_DK ss1579493465 Apr 01, 2015 (144)
65 EVA_UK10K_ALSPAC ss1638701274 Apr 01, 2015 (144)
66 EVA_UK10K_TWINSUK ss1681695307 Apr 01, 2015 (144)
67 EVA_DECODE ss1698742009 Apr 01, 2015 (144)
68 EVA_SVP ss1713691067 Apr 01, 2015 (144)
69 ILLUMINA ss1752383554 Sep 08, 2015 (146)
70 HAMMER_LAB ss1809485906 Sep 08, 2015 (146)
71 WEILL_CORNELL_DGM ss1938196798 Feb 12, 2016 (147)
72 ILLUMINA ss1959911437 Feb 12, 2016 (147)
73 GENOMED ss1969126272 Jul 19, 2016 (147)
74 JJLAB ss2029880771 Sep 14, 2016 (149)
75 ILLUMINA ss2094809805 Dec 20, 2016 (150)
76 ILLUMINA ss2095114073 Dec 20, 2016 (150)
77 USC_VALOUEV ss2158444827 Dec 20, 2016 (150)
78 HUMAN_LONGEVITY ss2242440819 Dec 20, 2016 (150)
79 TOPMED ss2408968644 Dec 20, 2016 (150)
80 SYSTEMSBIOZJU ss2629434183 Nov 08, 2017 (151)
81 ILLUMINA ss2633793402 Nov 08, 2017 (151)
82 ILLUMINA ss2635105530 Nov 08, 2017 (151)
83 GRF ss2704134704 Nov 08, 2017 (151)
84 GNOMAD ss2966994015 Nov 08, 2017 (151)
85 AFFY ss2985833254 Nov 08, 2017 (151)
86 SWEGEN ss3018125784 Nov 08, 2017 (151)
87 ILLUMINA ss3022115040 Nov 08, 2017 (151)
88 BIOINF_KMB_FNS_UNIBA ss3028773410 Nov 08, 2017 (151)
89 CSHL ss3352496697 Nov 08, 2017 (151)
90 TOPMED ss3359464082 Nov 08, 2017 (151)
91 ILLUMINA ss3628382285 Oct 12, 2018 (152)
92 ILLUMINA ss3631750242 Oct 12, 2018 (152)
93 ILLUMINA ss3633249701 Oct 12, 2018 (152)
94 ILLUMINA ss3633963732 Oct 12, 2018 (152)
95 ILLUMINA ss3634833529 Oct 12, 2018 (152)
96 ILLUMINA ss3635648839 Oct 12, 2018 (152)
97 ILLUMINA ss3636525769 Oct 12, 2018 (152)
98 ILLUMINA ss3637400922 Oct 12, 2018 (152)
99 ILLUMINA ss3638343219 Oct 12, 2018 (152)
100 ILLUMINA ss3639175372 Oct 12, 2018 (152)
101 ILLUMINA ss3639601973 Oct 12, 2018 (152)
102 ILLUMINA ss3640540827 Oct 12, 2018 (152)
103 ILLUMINA ss3643306172 Oct 12, 2018 (152)
104 URBANLAB ss3651014228 Oct 12, 2018 (152)
105 ILLUMINA ss3652570052 Oct 12, 2018 (152)
106 1000Genomes NC_000020.10 - 32729444 Oct 12, 2018 (152)
107 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 32729444 Oct 12, 2018 (152)
108 Genetic variation in the Estonian population NC_000020.10 - 32729444 Oct 12, 2018 (152)
109 gnomAD - Genomes NC_000020.10 - 32729444 Oct 12, 2018 (152)
110 TopMed NC_000020.11 - 34141638 Oct 12, 2018 (152)
111 UK 10K study - Twins NC_000020.10 - 32729444 Oct 12, 2018 (152)
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)
rs6057990 Mar 10, 2006 (126)
rs58130557 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss81251174, ss82141836, ss82294117, ss91687733, ss111930084, ss113283801, ss117532245, ss160727104, ss168073646, ss169498664, ss172049978, ss203877075, ss208659179, ss255612132, ss283367766, ss287452599, ss292644504, ss481097792, ss825532709, ss1397768188, ss1698742009, ss1713691067, ss2635105530, ss3639175372, ss3639601973, ss3643306172 NC_000020.9:32193104:T= NC_000020.11:34141637:T= (self)
78081542, 43221156, 30543728, 120347879, 43221156, ss228333633, ss237818928, ss243992569, ss481119814, ss482110985, ss485343982, ss537292455, ss566224247, ss662106711, ss778924584, ss783117739, ss784074577, ss832376477, ss833016219, ss833607047, ss834386050, ss994683348, ss1082177948, ss1364623389, ss1429044903, ss1579493465, ss1638701274, ss1681695307, ss1752383554, ss1809485906, ss1938196798, ss1959911437, ss1969126272, ss2029880771, ss2094809805, ss2095114073, ss2158444827, ss2408968644, ss2629434183, ss2633793402, ss2704134704, ss2966994015, ss2985833254, ss3018125784, ss3022115040, ss3352496697, ss3628382285, ss3631750242, ss3633249701, ss3633963732, ss3634833529, ss3635648839, ss3636525769, ss3637400922, ss3638343219, ss3640540827, ss3652570052 NC_000020.10:32729443:T= NC_000020.11:34141637:T= (self)
226303534, ss2242440819, ss3028773410, ss3359464082, ss3651014228 NC_000020.11:34141637:T= NC_000020.11:34141637:T= (self)
ss46555370, ss66588928, ss67397618, ss67768402, ss70835509, ss71418688, ss74876040, ss79202191, ss84396340, ss96193893, ss106186680, ss122429120, ss135724413, ss154328356, ss156385294, ss159504877, ss171974718, ss173871357 NT_011362.10:2925535:T= NC_000020.11:34141637:T= (self)
ss6788129, ss8372461, ss16905018, ss17702623, ss21802238 NT_028392.4:2896211:T= NC_000020.11:34141637:T= (self)
ss81251174, ss82141836, ss82294117, ss91687733, ss111930084, ss113283801, ss117532245, ss160727104, ss168073646, ss169498664, ss172049978, ss203877075, ss208659179, ss255612132, ss283367766, ss287452599, ss292644504, ss481097792, ss825532709, ss1397768188, ss1698742009, ss1713691067, ss2635105530, ss3639175372, ss3639601973, ss3643306172 NC_000020.9:32193104:T>G NC_000020.11:34141637:T>G (self)
78081542, 43221156, 30543728, 120347879, 43221156, ss228333633, ss237818928, ss243992569, ss481119814, ss482110985, ss485343982, ss537292455, ss566224247, ss662106711, ss778924584, ss783117739, ss784074577, ss832376477, ss833016219, ss833607047, ss834386050, ss994683348, ss1082177948, ss1364623389, ss1429044903, ss1579493465, ss1638701274, ss1681695307, ss1752383554, ss1809485906, ss1938196798, ss1959911437, ss1969126272, ss2029880771, ss2094809805, ss2095114073, ss2158444827, ss2408968644, ss2629434183, ss2633793402, ss2704134704, ss2966994015, ss2985833254, ss3018125784, ss3022115040, ss3352496697, ss3628382285, ss3631750242, ss3633249701, ss3633963732, ss3634833529, ss3635648839, ss3636525769, ss3637400922, ss3638343219, ss3640540827, ss3652570052 NC_000020.10:32729443:T>G NC_000020.11:34141637:T>G (self)
226303534, ss2242440819, ss3028773410, ss3359464082, ss3651014228 NC_000020.11:34141637:T>G NC_000020.11:34141637:T>G (self)
ss46555370, ss66588928, ss67397618, ss67768402, ss70835509, ss71418688, ss74876040, ss79202191, ss84396340, ss96193893, ss106186680, ss122429120, ss135724413, ss154328356, ss156385294, ss159504877, ss171974718, ss173871357 NT_011362.10:2925535:T>G NC_000020.11:34141637:T>G (self)
ss6788129, ss8372461, ss16905018, ss17702623, ss21802238 NT_028392.4:2896211:T>G NC_000020.11:34141637:T>G (self)
Help

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

15 citations for rs4911414
PMID Title Author Year Journal
19384953 Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Nan H et al. 2009 International journal of cancer
19863770 Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies. Udayakumar D et al. 2009 Genome medicine
19995372 Melanoma susceptibility variants on chromosome 20q11.22 are associated with pigmentary traits and the risk of nonmelanoma skin cancer. Nan H et al. 2010 The British journal of dermatology
20546537 Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. Gerstenblith MR et al. 2010 Pigment cell & melanoma research
20585100 Genome-wide association studies of cancer. Stadler ZK et al. 2010 Journal of clinical oncology
20585627 Web-based, participant-driven studies yield novel genetic associations for common traits. Eriksson N et al. 2010 PLoS genetics
21221757 ASIP genetic variants and the number of non-melanoma skin cancers. Lin W et al. 2011 Cancer causes & control
21926416 Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Amos CI et al. 2011 Human molecular genetics
22628150 Variants at chromosome 20 (ASIP locus) and melanoma risk. Maccioni L et al. 2013 International journal of cancer
24439955 Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Dong J et al. 2014 Neurobiology of aging
24895409 Post-GWAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79,000 women. Barrdahl M et al. 2014 Human molecular genetics
24924479 Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children. Bonilla C et al. 2014 BMC public health
25611573 Association of breast cancer risk loci with breast cancer survival. Barrdahl M et al. 2015 International journal of cancer
26070784 Genetic risk variants associated with in situ breast cancer. Campa D et al. 2015 Breast cancer research
29518100 Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels. Nair-Shalliker V et al. 2018 PloS one

Genomic regions, transcripts, and products
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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.post63+3f7b20b