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rs121912557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912557(A;A)
Make rs121912557(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position75857198
GeneMYO6
is asnp
is mentioned by
dbSNPrs121912557
dbSNP (classic)rs121912557
ClinGenrs121912557
ebirs121912557
HLIrs121912557
Exacrs121912557
Gnomadrs121912557
Varsomers121912557
LitVarrs121912557
Maprs121912557
PheGenIrs121912557
Biobankrs121912557
1000 genomesrs121912557
hgdprs121912557
ensemblrs121912557
geneviewrs121912557
scholarrs121912557
googlers121912557
pharmgkbrs121912557
gwascentralrs121912557
openSNPrs121912557
23andMers121912557
SNPshotrs121912557
SNPdbers121912557
MSV3drs121912557
GWAS Ctlgrs121912557
Max Magnitude0
OMIM600970
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912557(A;A)
Alt rs121912557(A;A)
Reference Rs121912557(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYO6
CLNDBN Deafness, autosomal dominant 22
Reversed 0
HGVS NC_000006.11:g.76566915G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009108.2,