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rs2276288

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2276288(A;T)
Make rs2276288(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77201591
GeneMYO7A
is asnp
is mentioned by
dbSNPrs2276288
ebirs2276288
HLIrs2276288
Exacrs2276288
Varsomers2276288
Maprs2276288
PheGenIrs2276288
hapmaprs2276288
1000 genomesrs2276288
hgdprs2276288
ensemblrs2276288
gopubmedrs2276288
geneviewrs2276288
scholarrs2276288
googlers2276288
pharmgkbrs2276288
gwascentralrs2276288
openSNPrs2276288
23andMers2276288
23andMe allrs2276288
SNP Nexus

SNPshotrs2276288
SNPdbers2276288
MSV3drs2276288
GWAS Ctlgrs2276288
GMAF0.4068
Max Magnitude0
Venter snp
Source plos
Gene MYO7A
allele T
frequency
sift TOLERATED
HuRef 1103649728788
Disease Association Defects in MYO7A are the cause of autosomal dominant nonsyndromic sensorineural deafness 11 (DFNA11) (MIM:601317). DFNA11 is a form of nonsyndromic sensorineural deafness with onset after complete speech acquisition and subsequent gradual progression.



[PMID 19320733] Pigmentation-related genes and their implication in malignant melanoma susceptibility.


GET Evidence
MYO7A-S1666C
aa_change Ser1666Cys
aa_change_short S1666C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.588325
summary



[PMID 22483387] Pilot candidate gene analysis of patients >/= 60 years old with aortic stenosis involving a tricuspid aortic valve.


[PMID 24903972] Genetic predisposition to calcific aortic stenosis and mitral annular calcification


ClinVar
Risk rs2276288(T;T)
Alt rs2276288(T;T)
Reference rs2276288(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MYO7A
CLNDBN not specified
Reversed 0
HGVS NC_000011.9:g.76912636A>T
CLNSRC ClinVar
CLNACC RCV000036174.3,