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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
dbSNP (classic)rs948962
ClinGenrs948962
ebirs948962
HLIrs948962
Exacrs948962
Gnomadrs948962
Varsomers948962
LitVarrs948962
Maprs948962
PheGenIrs948962
Biobankrs948962
1000 genomesrs948962
hgdprs948962
ensemblrs948962
geneviewrs948962
scholarrs948962
googlers948962
pharmgkbrs948962
gwascentralrs948962
openSNPrs948962
23andMers948962
SNPshotrs948962
SNPdbers948962
MSV3drs948962
GWAS Ctlgrs948962
GMAF0.4775
Max Magnitude0
? (G;G) (G;T) (T;T) 28




[PMID 18776599OA-icon.png] Susceptibility genes for gentamicin-induced vestibular dysfunction.



ClinVar
Risk rs948962(C;C) rs948962(T;T)
Alt rs948962(C;C) rs948962(T;T)
Reference Rs948962(G;G)
Significance Non-pathogenic
Disease not specified Nonsyndromic Hearing Loss Nonsyndromic Hearing Loss Retinitis pigmentosa-deafness syndrome
Variation info
Gene MYO7A
CLNDBN not specified Nonsyndromic Hearing Loss, Recessive Nonsyndromic Hearing Loss, Dominant Retinitis pigmentosa-deafness syndrome
Reversed 1
HGVS NC_000011.9:g.76919478C>A; NC_000011.9:g.76919478C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000036209.4, RCV000274378.1, RCV000309473.1, RCV000366542.1, RCV000270823.1,