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rs121912560

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912560(A;G)
Make rs121912560(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position75841299
GeneMYO6
is asnp
is mentioned by
dbSNPrs121912560
ebirs121912560
HLIrs121912560
Exacrs121912560
Varsomers121912560
Maprs121912560
PheGenIrs121912560
hapmaprs121912560
1000 genomesrs121912560
hgdprs121912560
ensemblrs121912560
gopubmedrs121912560
geneviewrs121912560
scholarrs121912560
googlers121912560
pharmgkbrs121912560
gwascentralrs121912560
openSNPrs121912560
23andMers121912560
23andMe allrs121912560
SNP Nexus

SNPshotrs121912560
SNPdbers121912560
MSV3drs121912560
GWAS Ctlgrs121912560
Merged fromRs28936391
Max Magnitude0
OMIM600970
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121912560(G;G)
Alt rs121912560(G;G)
Reference rs121912560(A;A)
Significance Pathogenic
Disease Sensorineural deafness with hypertrophic cardiomyopathy Non-syndromic genetic deafness
Variation info
Gene MYO6
CLNDBN Sensorineural deafness with hypertrophic cardiomyopathy Non-syndromic genetic deafness
Reversed 0
HGVS NC_000006.11:g.76551016A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009112.2, RCV000219073.1,