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rs948962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs948962(G;T)
Make rs948962(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position77208433
GeneMYO7A
is asnp
is mentioned by
dbSNPrs948962
ebirs948962
HLIrs948962
Exacrs948962
Varsomers948962
Maprs948962
PheGenIrs948962
hapmaprs948962
1000 genomesrs948962
hgdprs948962
ensemblrs948962
gopubmedrs948962
geneviewrs948962
scholarrs948962
googlers948962
pharmgkbrs948962
gwascentralrs948962
openSNPrs948962
23andMers948962
23andMe allrs948962
SNP Nexus

SNPshotrs948962
SNPdbers948962
MSV3drs948962
GWAS Ctlgrs948962
GMAF0.4775
Max Magnitude0
? (G;G) (G;T) (T;T) 28


Venter snp
Source plos
Gene MYO7A
allele A
frequency 0.383
sift TOLERATED
HuRef 1103649728770
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 18776599OA-icon.png] Susceptibility genes for gentamicin-induced vestibular dysfunction.


GET Evidence
MYO7A-L1954I
aa_change Leu1954Ile
aa_change_short L1954I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.548672
summary



ClinVar
Risk rs948962(T;T)
Alt rs948962(T;T)
Reference rs948962(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene MYO7A
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.76919478C>A
CLNSRC ClinVar
CLNACC RCV000036209.3,