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rs121912558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912558(C;T)
Make rs121912558(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position75914119
GeneMYO6
is asnp
is mentioned by
dbSNPrs121912558
ebirs121912558
HLIrs121912558
Exacrs121912558
Varsomers121912558
Maprs121912558
PheGenIrs121912558
hapmaprs121912558
1000 genomesrs121912558
hgdprs121912558
ensemblrs121912558
gopubmedrs121912558
geneviewrs121912558
scholarrs121912558
googlers121912558
pharmgkbrs121912558
gwascentralrs121912558
openSNPrs121912558
23andMers121912558
23andMe allrs121912558
SNP Nexus

SNPshotrs121912558
SNPdbers121912558
MSV3drs121912558
GWAS Ctlgrs121912558
Max Magnitude0
OMIM600970
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912558(T;T)
Alt rs121912558(T;T)
Reference rs121912558(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYO6
CLNDBN Deafness, autosomal recessive 37
Reversed 0
HGVS NC_000006.11:g.76623836C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009110.3,