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rs121912559

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912559(A;T)
Make rs121912559(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position75840678
GeneMYO6
is asnp
is mentioned by
dbSNPrs121912559
dbSNP (classic)rs121912559
ClinGenrs121912559
ebirs121912559
HLIrs121912559
Exacrs121912559
Gnomadrs121912559
Varsomers121912559
LitVarrs121912559
Maprs121912559
PheGenIrs121912559
Biobankrs121912559
1000 genomesrs121912559
hgdprs121912559
ensemblrs121912559
geneviewrs121912559
scholarrs121912559
googlers121912559
pharmgkbrs121912559
gwascentralrs121912559
openSNPrs121912559
23andMers121912559
SNPshotrs121912559
SNPdbers121912559
MSV3drs121912559
GWAS Ctlgrs121912559
Merged fromRs28936390
Max Magnitude0
OMIM600970
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912559(T;T)
Alt rs121912559(T;T)
Reference Rs121912559(A;A)
Significance Pathogenic
Disease Deafness not specified
Variation info
Gene MYO6
CLNDBN Deafness, autosomal recessive 37 not specified
Reversed 0
HGVS NC_000006.11:g.76550395A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009111.2, RCV000154352.1,