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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
dbSNP (classic)rs33962952
ClinGenrs33962952
ebirs33962952
HLIrs33962952
Exacrs33962952
Gnomadrs33962952
Varsomers33962952
LitVarrs33962952
Maprs33962952
PheGenIrs33962952
Biobankrs33962952
1000 genomesrs33962952
hgdprs33962952
ensemblrs33962952
geneviewrs33962952
scholarrs33962952
googlers33962952
pharmgkbrs33962952
gwascentralrs33962952
openSNPrs33962952
23andMers33962952
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 Probable-non-pathogenic
Disease Deafness not specified Nonsyndromic Hearing Loss
Variation info
Gene MYO1A
CLNDBN Deafness, autosomal dominant 48 not specified Nonsyndromic Hearing Loss, Dominant
Reversed 0
HGVS NC_000012.11:g.57431402C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008627.4, RCV000038471.3, RCV000369472.1,