Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909306(C;C)
Make rs121909306(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57029584
GeneMYO1A
is asnp
is mentioned by
dbSNPrs121909306
dbSNP (classic)rs121909306
ClinGenrs121909306
ebirs121909306
HLIrs121909306
Exacrs121909306
Gnomadrs121909306
Varsomers121909306
LitVarrs121909306
Maprs121909306
PheGenIrs121909306
Biobankrs121909306
1000 genomesrs121909306
hgdprs121909306
ensemblrs121909306
geneviewrs121909306
scholarrs121909306
googlers121909306
pharmgkbrs121909306
gwascentralrs121909306
openSNPrs121909306
23andMers121909306
SNPshotrs121909306
SNPdbers121909306
MSV3drs121909306
GWAS Ctlgrs121909306
Max Magnitude0
OMIM601478
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121909306(C;C)
Alt rs121909306(C;C)
Reference Rs121909306(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYO1A
CLNDBN Deafness, autosomal dominant 48
Reversed 1
HGVS NC_000012.11:g.57423368A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008628.4,