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rs121912561

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912561(C;T)
Make rs121912561(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position75886881
GeneMYO6
is asnp
is mentioned by
dbSNPrs121912561
dbSNP (classic)rs121912561
ClinGenrs121912561
ebirs121912561
HLIrs121912561
Exacrs121912561
Gnomadrs121912561
Varsomers121912561
LitVarrs121912561
Maprs121912561
PheGenIrs121912561
Biobankrs121912561
1000 genomesrs121912561
hgdprs121912561
ensemblrs121912561
geneviewrs121912561
scholarrs121912561
googlers121912561
pharmgkbrs121912561
gwascentralrs121912561
openSNPrs121912561
23andMers121912561
SNPshotrs121912561
SNPdbers121912561
MSV3drs121912561
GWAS Ctlgrs121912561
Max Magnitude0
OMIM600970
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121912561(T;T)
Alt rs121912561(T;T)
Reference Rs121912561(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYO6
CLNDBN Deafness, autosomal dominant 22
Reversed 0
HGVS NC_000006.11:g.76596598C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009113.3,