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rs61753849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61753849(G;G)
Make rs61753849(G;T)
Make rs61753849(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position57041441
GeneMYO1A
is asnp
is mentioned by
dbSNPrs61753849
dbSNP (classic)rs61753849
ClinGenrs61753849
ebirs61753849
HLIrs61753849
Exacrs61753849
Gnomadrs61753849
Varsomers61753849
LitVarrs61753849
Maprs61753849
PheGenIrs61753849
Biobankrs61753849
1000 genomesrs61753849
hgdprs61753849
ensemblrs61753849
geneviewrs61753849
scholarrs61753849
googlers61753849
pharmgkbrs61753849
gwascentralrs61753849
openSNPrs61753849
23andMers61753849
SNPshotrs61753849
SNPdbers61753849
MSV3drs61753849
GWAS Ctlgrs61753849
Max Magnitude0
OMIM601478
Desc
Variant0004
Relatedalso
ClinVar
Risk rs61753849(A;A)
Alt rs61753849(A;A)
Reference Rs61753849(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYO1A
CLNDBN Deafness, autosomal dominant 48
Reversed 0
HGVS NC_000012.11:g.57435225C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008626.4,