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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.

rs2276288

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr11:77201591 (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
A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.44972 (110637/246012, GnomAD)
A=0.41288 (51845/125568, TOPMED)
A=0.45601 (55008/120630, ExAC) (+ 5 more)
A=0.3994 (12299/30794, GnomAD)
A=0.4109 (5238/12748, GO-ESP)
A=0.448 (2245/5008, 1000G)
A=0.448 (1728/3854, ALSPAC)
A=0.438 (1623/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MYO7A : Missense Variant
Publications
6 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 11 NC_000011.10:g.77201591A>T
GRCh37.p13 chr 11 NC_000011.9:g.76912636A>T
MYO7A RefSeqGene NG_009086.1:g.78327A>T
Gene: MYO7A, myosin VIIA (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MYO7A transcript variant 3 NM_001127179.2:c. N/A Genic Downstream Transcript Variant
MYO7A transcript variant 1 NM_000260.3:c.499...

NM_000260.3:c.4996A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform 1 NP_000251.3:p.Ser...

NP_000251.3:p.Ser1666Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant 2 NM_001127180.1:c....

NM_001127180.1:c.4882A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform 2 NP_001120652.1:p....

NP_001120652.1:p.Ser1628Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X18 XM_017017787.1:c. N/A Genic Downstream Transcript Variant
MYO7A transcript variant X1 XM_011545046.2:c....

XM_011545046.2:c.5086A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X1 XP_011543348.2:p....

XP_011543348.2:p.Ser1696Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X2 XM_017017778.1:c....

XM_017017778.1:c.5080A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X2 XP_016873267.1:p....

XP_016873267.1:p.Ser1694Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X3 XM_017017779.1:c....

XM_017017779.1:c.5077A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X3 XP_016873268.1:p....

XP_016873268.1:p.Ser1693Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X4 XM_017017780.1:c....

XM_017017780.1:c.5086A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X4 XP_016873269.1:p....

XP_016873269.1:p.Ser1696Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X5 XM_011545044.2:c....

XM_011545044.2:c.4996A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X5 XP_011543346.1:p....

XP_011543346.1:p.Ser1666Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X6 XM_017017781.1:c....

XM_017017781.1:c.4990A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X6 XP_016873270.1:p....

XP_016873270.1:p.Ser1664Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X7 XM_017017782.1:c....

XM_017017782.1:c.4972A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X7 XP_016873271.1:p....

XP_016873271.1:p.Ser1658Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X8 XM_017017783.1:c....

XM_017017783.1:c.4969A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X8 XP_016873272.1:p....

XP_016873272.1:p.Ser1657Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X9 XM_017017784.1:c....

XM_017017784.1:c.4969A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X9 XP_016873273.1:p....

XP_016873273.1:p.Ser1657Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X10 XM_017017785.1:c....

XM_017017785.1:c.4849A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X10 XP_016873274.1:p....

XP_016873274.1:p.Ser1617Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X11 XM_017017786.1:c....

XM_017017786.1:c.5086A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X11 XP_016873275.1:p....

XP_016873275.1:p.Ser1696Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X12 XM_011545050.2:c....

XM_011545050.2:c.4732A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X12 XP_011543352.1:p....

XP_011543352.1:p.Ser1578Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X19 XM_017017788.1:c....

XM_017017788.1:c.4972A>T

S [AGT] > C [TGT] Coding Sequence Variant
unconventional myosin-VIIa isoform X14 XP_016873277.1:p....

XP_016873277.1:p.Ser1658Cys

S (Ser) > C (Cys) Missense Variant
MYO7A transcript variant X13 XR_001747885.1:n....

XR_001747885.1:n.5101A>T

N/A Non Coding Transcript Variant
MYO7A transcript variant X14 XR_001747886.1:n....

XR_001747886.1:n.5101A>T

N/A Non Coding Transcript Variant
MYO7A transcript variant X15 XR_001747887.1:n....

XR_001747887.1:n.5101A>T

N/A Non Coding Transcript Variant
MYO7A transcript variant X16 XR_001747888.1:n....

XR_001747888.1:n.5101A>T

N/A Non Coding Transcript Variant
MYO7A transcript variant X17 XR_001747889.1:n. N/A Genic Downstream Transcript 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: 52439 )
ClinVar Accession Disease Names Clinical Significance
RCV000036174.4 not specified Benign
RCV000294774.1 Nonsyndromic Hearing Loss, Recessive Benign
RCV000335830.1 Nonsyndromic Hearing Loss, Dominant Benign
RCV000389186.1 Retinitis pigmentosa-deafness syndrome Benign
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
Trans-Omics for Precision Medicine Global Study-wide 125568 A=0.41288 T=0.58712
The Exome Aggregation Consortium Global Study-wide 120630 A=0.45601 T=0.54399
The Exome Aggregation Consortium Europe Sub 73254 A=0.4478 T=0.5522
The Exome Aggregation Consortium Asian Sub 25094 A=0.5925 T=0.4075
The Exome Aggregation Consortium American Sub 11558 A=0.3270 T=0.6730
The Exome Aggregation Consortium African Sub 9832 A=0.316 T=0.684
The Exome Aggregation Consortium Other Sub 892 A=0.51 T=0.49
The Genome Aggregation Database Global Study-wide 30794 A=0.3994 T=0.6006
The Genome Aggregation Database European Sub 18392 A=0.4270 T=0.5730
The Genome Aggregation Database African Sub 8676 A=0.315 T=0.685
The Genome Aggregation Database East Asian Sub 1614 A=0.518 T=0.482
The Genome Aggregation Database Other Sub 972 A=0.44 T=0.56
The Genome Aggregation Database American Sub 838 A=0.34 T=0.66
The Genome Aggregation Database Ashkenazi Jewish Sub 302 A=0.55 T=0.45
GO Exome Sequencing Project Global Study-wide 12748 A=0.4109 T=0.5891
GO Exome Sequencing Project European American Sub 8462 A=0.457 T=0.543
GO Exome Sequencing Project African American Sub 4286 A=0.319 T=0.681
1000Genomes Global Study-wide 5008 A=0.448 T=0.552
1000Genomes African Sub 1322 A=0.275 T=0.725
1000Genomes East Asian Sub 1008 A=0.548 T=0.452
1000Genomes Europe Sub 1006 A=0.434 T=0.566
1000Genomes South Asian Sub 978 A=0.66 T=0.34
1000Genomes American Sub 694 A=0.35 T=0.65
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.448 T=0.552
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.438 T=0.562
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 A= T Note
GRCh38.p7 chr 11 NC_000011.10:g.77201591A= NC_000011.10:g.77201591A>T
GRCh37.p13 chr 11 NC_000011.9:g.76912636A= NC_000011.9:g.76912636A>T
MYO7A RefSeqGene NG_009086.1:g.78327A= NG_009086.1:g.78327A>T
MYO7A transcript variant 1 NM_000260.3:c.4996A= NM_000260.3:c.4996A>T
MYO7A transcript variant 2 NM_001127180.1:c.4882A= NM_001127180.1:c.4882A>T
MYO7A transcript variant X5 XM_011545044.2:c.4996A= XM_011545044.2:c.4996A>T
MYO7A transcript variant X1 XM_011545046.2:c.5086A= XM_011545046.2:c.5086A>T
MYO7A transcript variant X12 XM_011545050.2:c.4732A= XM_011545050.2:c.4732A>T
MYO7A transcript variant X4 XM_017017780.1:c.5086A= XM_017017780.1:c.5086A>T
MYO7A transcript variant X13 XR_001747885.1:n.5101A= XR_001747885.1:n.5101A>T
MYO7A transcript variant X15 XR_001747887.1:n.5101A= XR_001747887.1:n.5101A>T
MYO7A transcript variant X19 XM_017017788.1:c.4972A= XM_017017788.1:c.4972A>T
MYO7A transcript variant X9 XM_017017784.1:c.4969A= XM_017017784.1:c.4969A>T
MYO7A transcript variant X2 XM_017017778.1:c.5080A= XM_017017778.1:c.5080A>T
MYO7A transcript variant X3 XM_017017779.1:c.5077A= XM_017017779.1:c.5077A>T
MYO7A transcript variant X6 XM_017017781.1:c.4990A= XM_017017781.1:c.4990A>T
MYO7A transcript variant X7 XM_017017782.1:c.4972A= XM_017017782.1:c.4972A>T
MYO7A transcript variant X8 XM_017017783.1:c.4969A= XM_017017783.1:c.4969A>T
MYO7A transcript variant X10 XM_017017785.1:c.4849A= XM_017017785.1:c.4849A>T
MYO7A transcript variant X11 XM_017017786.1:c.5086A= XM_017017786.1:c.5086A>T
MYO7A transcript variant X14 XR_001747886.1:n.5101A= XR_001747886.1:n.5101A>T
MYO7A transcript variant X16 XR_001747888.1:n.5101A= XR_001747888.1:n.5101A>T
unconventional myosin-VIIa isoform 1 NP_000251.3:p.Ser1666= NP_000251.3:p.Ser1666Cys
unconventional myosin-VIIa isoform 2 NP_001120652.1:p.Ser1628= NP_001120652.1:p.Ser162...

NP_001120652.1:p.Ser1628Cys

unconventional myosin-VIIa isoform X5 XP_011543346.1:p.Ser1666= XP_011543346.1:p.Ser166...

XP_011543346.1:p.Ser1666Cys

unconventional myosin-VIIa isoform X1 XP_011543348.2:p.Ser1696= XP_011543348.2:p.Ser169...

XP_011543348.2:p.Ser1696Cys

unconventional myosin-VIIa isoform X12 XP_011543352.1:p.Ser1578= XP_011543352.1:p.Ser157...

XP_011543352.1:p.Ser1578Cys

unconventional myosin-VIIa isoform X4 XP_016873269.1:p.Ser1696= XP_016873269.1:p.Ser169...

XP_016873269.1:p.Ser1696Cys

unconventional myosin-VIIa isoform X14 XP_016873277.1:p.Ser1658= XP_016873277.1:p.Ser165...

XP_016873277.1:p.Ser1658Cys

unconventional myosin-VIIa isoform X9 XP_016873273.1:p.Ser1657= XP_016873273.1:p.Ser165...

XP_016873273.1:p.Ser1657Cys

unconventional myosin-VIIa isoform X2 XP_016873267.1:p.Ser1694= XP_016873267.1:p.Ser169...

XP_016873267.1:p.Ser1694Cys

unconventional myosin-VIIa isoform X3 XP_016873268.1:p.Ser1693= XP_016873268.1:p.Ser169...

XP_016873268.1:p.Ser1693Cys

unconventional myosin-VIIa isoform X6 XP_016873270.1:p.Ser1664= XP_016873270.1:p.Ser166...

XP_016873270.1:p.Ser1664Cys

unconventional myosin-VIIa isoform X7 XP_016873271.1:p.Ser1658= XP_016873271.1:p.Ser165...

XP_016873271.1:p.Ser1658Cys

unconventional myosin-VIIa isoform X8 XP_016873272.1:p.Ser1657= XP_016873272.1:p.Ser165...

XP_016873272.1:p.Ser1657Cys

unconventional myosin-VIIa isoform X10 XP_016873274.1:p.Ser1617= XP_016873274.1:p.Ser161...

XP_016873274.1:p.Ser1617Cys

unconventional myosin-VIIa isoform X11 XP_016873275.1:p.Ser1696= XP_016873275.1:p.Ser169...

XP_016873275.1:p.Ser1696Cys

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#.

4 ClinVar, 8 Frequency, 101 SubSNP submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3212732 Sep 28, 2001 (100)
2 SC_SNP ss15917184 Feb 27, 2004 (120)
3 SSAHASNP ss20789519 Apr 05, 2004 (121)
4 ABI ss38710792 Mar 14, 2006 (126)
5 KRIBB_YJKIM ss65844235 Nov 29, 2006 (127)
6 SI_EXO ss71648461 May 16, 2007 (127)
7 CGM_KYOTO ss76872777 Dec 06, 2007 (129)
8 HGSV ss77452121 Dec 06, 2007 (129)
9 HGSV ss85293769 Dec 14, 2007 (130)
10 HGSV ss85443209 Dec 14, 2007 (130)
11 HUMANGENOME_JCVI ss97399249 Feb 04, 2009 (130)
12 BGI ss106753405 Feb 04, 2009 (130)
13 1000GENOMES ss110685457 Jan 25, 2009 (130)
14 1000GENOMES ss114818215 Jan 25, 2009 (130)
15 ILLUMINA-UK ss119902978 Dec 01, 2009 (131)
16 ENSEMBL ss132029954 Dec 01, 2009 (131)
17 ILLUMINA ss160526411 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss168591827 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss170308051 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss175193033 Jul 04, 2010 (132)
21 BUSHMAN ss202904529 Jul 04, 2010 (132)
22 BCM-HGSC-SUB ss207885336 Jul 04, 2010 (132)
23 1000GENOMES ss225324809 Jul 14, 2010 (132)
24 1000GENOMES ss235619039 Jul 15, 2010 (132)
25 1000GENOMES ss242239669 Jul 15, 2010 (132)
26 GMI ss281072675 May 04, 2012 (137)
27 PJP ss291076630 May 09, 2011 (134)
28 ILLUMINA ss480499858 May 04, 2012 (137)
29 ILLUMINA ss480514234 May 04, 2012 (137)
30 ILLUMINA ss481319978 Sep 08, 2015 (146)
31 ILLUMINA ss485047438 May 04, 2012 (137)
32 EXOME_CHIP ss491456572 May 04, 2012 (137)
33 CLINSEQ_SNP ss491651148 May 04, 2012 (137)
34 ILLUMINA ss537067214 Sep 08, 2015 (146)
35 TISHKOFF ss562665000 Apr 25, 2013 (138)
36 SSMP ss658179597 Apr 25, 2013 (138)
37 NHLBI-ESP ss713038570 Apr 25, 2013 (138)
38 ILLUMINA ss778719018 Aug 21, 2014 (142)
39 ILLUMINA ss780902006 Aug 21, 2014 (142)
40 ILLUMINA ss782969937 Aug 21, 2014 (142)
41 ILLUMINA ss783589175 Aug 21, 2014 (142)
42 ILLUMINA ss783931557 Aug 21, 2014 (142)
43 ILLUMINA ss832226247 Apr 01, 2015 (144)
44 ILLUMINA ss834178394 Aug 21, 2014 (142)
45 JMKIDD_LAB ss974480503 Aug 21, 2014 (142)
46 EVA-GONL ss988697296 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1067526676 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1077848753 Aug 21, 2014 (142)
49 1000GENOMES ss1341969102 Aug 21, 2014 (142)
50 DDI ss1426681595 Apr 01, 2015 (144)
51 EVA_GENOME_DK ss1575802638 Apr 01, 2015 (144)
52 EVA_FINRISK ss1584077069 Apr 01, 2015 (144)
53 EVA_DECODE ss1598358496 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1626938524 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1669932557 Apr 01, 2015 (144)
56 EVA_EXAC ss1690559531 Apr 01, 2015 (144)
57 EVA_MGP ss1711303060 Apr 01, 2015 (144)
58 ILLUMINA ss1752033092 Sep 08, 2015 (146)
59 ILLUMINA ss1752033093 Sep 08, 2015 (146)
60 HAMMER_LAB ss1806885880 Sep 08, 2015 (146)
61 ILLUMINA ss1917864221 Feb 12, 2016 (147)
62 WEILL_CORNELL_DGM ss1932053035 Feb 12, 2016 (147)
63 ILLUMINA ss1946316852 Feb 12, 2016 (147)
64 ILLUMINA ss1946316853 Feb 12, 2016 (147)
65 ILLUMINA ss1959367511 Feb 12, 2016 (147)
66 ILLUMINA ss1959367512 Feb 12, 2016 (147)
67 GENOMED ss1967395361 Jul 19, 2016 (147)
68 JJLAB ss2026770676 Sep 14, 2016 (149)
69 USC_VALOUEV ss2155082366 Dec 20, 2016 (150)
70 HUMAN_LONGEVITY ss2183714103 Dec 20, 2016 (150)
71 TOPMED ss2347206348 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2627859726 Nov 08, 2017 (151)
73 ILLUMINA ss2632853531 Nov 08, 2017 (151)
74 GRF ss2699378111 Nov 08, 2017 (151)
75 ILLUMINA ss2710740444 Nov 08, 2017 (151)
76 GNOMAD ss2739270289 Nov 08, 2017 (151)
77 GNOMAD ss2748703883 Nov 08, 2017 (151)
78 GNOMAD ss2901649434 Nov 08, 2017 (151)
79 AFFY ss2984950812 Nov 08, 2017 (151)
80 SWEGEN ss3008379552 Nov 08, 2017 (151)
81 ILLUMINA ss3021355330 Nov 08, 2017 (151)
82 ILLUMINA ss3021355331 Nov 08, 2017 (151)
83 EVA_SAMSUNG_MC ss3023067015 Nov 08, 2017 (151)
84 BIOINF_KMB_FNS_UNIBA ss3027182552 Nov 08, 2017 (151)
85 TOPMED ss3149932109 Nov 08, 2017 (151)
86 CSHL ss3349676360 Nov 08, 2017 (151)
87 ILLUMINA ss3625604540 Jul 20, 2018 (151)
88 ILLUMINA ss3626695168 Jul 20, 2018 (151)
89 ILLUMINA ss3626695169 Jul 20, 2018 (151)
90 ILLUMINA ss3630869416 Jul 20, 2018 (151)
91 ILLUMINA ss3632990810 Jul 20, 2018 (151)
92 ILLUMINA ss3633690449 Jul 20, 2018 (151)
93 ILLUMINA ss3634464356 Jul 20, 2018 (151)
94 ILLUMINA ss3634464357 Jul 20, 2018 (151)
95 ILLUMINA ss3635381943 Jul 20, 2018 (151)
96 ILLUMINA ss3636147481 Jul 20, 2018 (151)
97 ILLUMINA ss3637132818 Jul 20, 2018 (151)
98 ILLUMINA ss3640171695 Jul 20, 2018 (151)
99 ILLUMINA ss3640171696 Jul 20, 2018 (151)
100 ILLUMINA ss3644569679 Jul 20, 2018 (151)
101 ILLUMINA ss3644569680 Jul 20, 2018 (151)
102 1000Genomes NC_000011.9 - 76912636 Jul 20, 2018 (151)
103 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 76912636 Jul 20, 2018 (151)
104 The Exome Aggregation Consortium NC_000011.9 - 76912636 Jul 20, 2018 (151)
105 The Genome Aggregation Database NC_000011.9 - 76912636 Jul 20, 2018 (151)
106 The Genome Aggregation Database NC_000011.9 - 76912636 Jul 20, 2018 (151)
107 GO Exome Sequencing Project NC_000011.9 - 76912636 Jul 20, 2018 (151)
108 Trans-Omics for Precision Medicine NC_000011.10 - 77201591 Jul 20, 2018 (151)
109 UK 10K study - Twins NC_000011.9 - 76912636 Jul 20, 2018 (151)
110 ClinVar RCV000036174.4 Jul 20, 2018 (151)
111 ClinVar RCV000294774.1 Jul 20, 2018 (151)
112 ClinVar RCV000335830.1 Jul 20, 2018 (151)
113 ClinVar RCV000389186.1 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)
rs57060436 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss77452121, ss85293769, ss85443209, ss110685457, ss114818215, ss119902978, ss160526411, ss168591827, ss170308051, ss175193033, ss202904529, ss207885336, ss281072675, ss291076630, ss480499858, ss491651148, ss1598358496 NC_000011.8:76590283:A= NC_000011.10:77201590:A= (self)
54515030, 30257551, 829017, 35350956, 8285024, 1114146, 30257551, ss225324809, ss235619039, ss242239669, ss480514234, ss481319978, ss485047438, ss491456572, ss537067214, ss562665000, ss658179597, ss713038570, ss778719018, ss780902006, ss782969937, ss783589175, ss783931557, ss832226247, ss834178394, ss974480503, ss988697296, ss1067526676, ss1077848753, ss1341969102, ss1426681595, ss1575802638, ss1584077069, ss1626938524, ss1669932557, ss1690559531, ss1711303060, ss1752033092, ss1752033093, ss1806885880, ss1917864221, ss1932053035, ss1946316852, ss1946316853, ss1959367511, ss1959367512, ss1967395361, ss2026770676, ss2155082366, ss2347206348, ss2627859726, ss2632853531, ss2699378111, ss2710740444, ss2739270289, ss2748703883, ss2901649434, ss2984950812, ss3008379552, ss3021355330, ss3021355331, ss3023067015, ss3349676360, ss3625604540, ss3626695168, ss3626695169, ss3630869416, ss3632990810, ss3633690449, ss3634464356, ss3634464357, ss3635381943, ss3636147481, ss3637132818, ss3640171695, ss3640171696, ss3644569679, ss3644569680 NC_000011.9:76912635:A= NC_000011.10:77201590:A= (self)
67029693, ss2183714103, ss3027182552, ss3149932109 NC_000011.10:77201590:A= NC_000011.10:77201590:A= (self)
ss15917184, ss20789519 NT_033927.6:7111664:A= NC_000011.10:77201590:A= (self)
ss3212732, ss38710792, ss65844235, ss71648461, ss76872777, ss97399249, ss106753405, ss132029954 NT_167190.1:22218430:A= NC_000011.10:77201590:A= (self)
ss77452121, ss85293769, ss85443209, ss110685457, ss114818215, ss119902978, ss160526411, ss168591827, ss170308051, ss175193033, ss202904529, ss207885336, ss281072675, ss291076630, ss480499858, ss491651148, ss1598358496 NC_000011.8:76590283:A>T NC_000011.10:77201590:A>T (self)
54515030, 30257551, 829017, 35350956, 8285024, 1114146, 30257551, ss225324809, ss235619039, ss242239669, ss480514234, ss481319978, ss485047438, ss491456572, ss537067214, ss562665000, ss658179597, ss713038570, ss778719018, ss780902006, ss782969937, ss783589175, ss783931557, ss832226247, ss834178394, ss974480503, ss988697296, ss1067526676, ss1077848753, ss1341969102, ss1426681595, ss1575802638, ss1584077069, ss1626938524, ss1669932557, ss1690559531, ss1711303060, ss1752033092, ss1752033093, ss1806885880, ss1917864221, ss1932053035, ss1946316852, ss1946316853, ss1959367511, ss1959367512, ss1967395361, ss2026770676, ss2155082366, ss2347206348, ss2627859726, ss2632853531, ss2699378111, ss2710740444, ss2739270289, ss2748703883, ss2901649434, ss2984950812, ss3008379552, ss3021355330, ss3021355331, ss3023067015, ss3349676360, ss3625604540, ss3626695168, ss3626695169, ss3630869416, ss3632990810, ss3633690449, ss3634464356, ss3634464357, ss3635381943, ss3636147481, ss3637132818, ss3640171695, ss3640171696, ss3644569679, ss3644569680 NC_000011.9:76912635:A>T NC_000011.10:77201590:A>T (self)
RCV000036174.4, RCV000294774.1, RCV000335830.1, RCV000389186.1, 67029693, ss2183714103, ss3027182552, ss3149932109 NC_000011.10:77201590:A>T NC_000011.10:77201590:A>T (self)
ss15917184, ss20789519 NT_033927.6:7111664:A>T NC_000011.10:77201590:A>T (self)
ss3212732, ss38710792, ss65844235, ss71648461, ss76872777, ss97399249, ss106753405, ss132029954 NT_167190.1:22218430:A>T NC_000011.10:77201590:A>T (self)
Help

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

6 citations for rs2276288
PMID Title Author Year Journal
19320733 Pigmentation-related genes and their implication in malignant melanoma susceptibility. Fernandez LP et al. 2009 Experimental dermatology
20158590 Predicting phenotype from genotype: normal pigmentation. Valenzuela RK et al. 2010 Journal of forensic sciences
22483387 Pilot candidate gene analysis of patients ≥ 60 years old with aortic stenosis involving a tricuspid aortic valve. Ellis SG et al. 2012 The American journal of cardiology
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
24903972 Genetic predisposition to calcific aortic stenosis and mitral annular calcification. Kutikhin AG et al. 2014 Molecular biology reports
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

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