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rs121909305

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909305(C;T)
Make rs121909305(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position57047675
GeneMYO1A
is asnp
is mentioned by
dbSNPrs121909305
dbSNP (classic)rs121909305
ClinGenrs121909305
ebirs121909305
HLIrs121909305
Exacrs121909305
Gnomadrs121909305
Varsomers121909305
LitVarrs121909305
Maprs121909305
PheGenIrs121909305
Biobankrs121909305
1000 genomesrs121909305
hgdprs121909305
ensemblrs121909305
geneviewrs121909305
scholarrs121909305
googlers121909305
pharmgkbrs121909305
gwascentralrs121909305
openSNPrs121909305
23andMers121909305
SNPshotrs121909305
SNPdbers121909305
MSV3drs121909305
GWAS Ctlgrs121909305
GMAF0.0004591
Max Magnitude0
OMIM601478
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909305(G;G) rs121909305(T;T)
Alt rs121909305(G;G) rs121909305(T;T)
Reference Rs121909305(C;C)
Significance Other
Disease Deafness not specified Nonsyndromic Hearing Loss
Variation info
Gene MYO1A
CLNDBN Deafness, autosomal dominant 48 not specified Nonsyndromic Hearing Loss, Dominant
Reversed 1
HGVS NC_000012.11:g.57441459G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008623.4, RCV000151452.2, RCV000263583.1,