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rs33962952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs33962952(C;T)
Make rs33962952(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57037618
GeneMYO1A
is asnp
is mentioned by
dbSNPrs33962952
ebirs33962952
HLIrs33962952
Exacrs33962952
Varsomers33962952
Maprs33962952
PheGenIrs33962952
hapmaprs33962952
1000 genomesrs33962952
hgdprs33962952
ensemblrs33962952
gopubmedrs33962952
geneviewrs33962952
scholarrs33962952
googlers33962952
pharmgkbrs33962952
gwascentralrs33962952
openSNPrs33962952
23andMers33962952
23andMe allrs33962952
SNP Nexus

SNPshotrs33962952
SNPdbers33962952
MSV3drs33962952
GWAS Ctlgrs33962952
GMAF0.01469
Max Magnitude0
OMIM601478
Desc
Variant0005
Relatedalso


ClinVar
Risk rs33962952(T;T)
Alt rs33962952(T;T)
Reference rs33962952(C;C)
Significance Non-pathogenic
Disease Deafness not specified
Variation info
Gene MYO1A
CLNDBN Deafness, autosomal dominant 48 not specified
Reversed 0
HGVS NC_000012.11:g.57431402C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008627.3, RCV000038471.2,



GET Evidence
MYO1A-G662E
aa_change Gly662Glu
aa_change_short G662E
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.0257483
summary Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss.