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rs121908972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908972(G;T)
Make rs121908972(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position18141104
GeneMYO15A
is asnp
is mentioned by
dbSNPrs121908972
dbSNP (classic)rs121908972
ClinGenrs121908972
ebirs121908972
HLIrs121908972
Exacrs121908972
Gnomadrs121908972
Varsomers121908972
LitVarrs121908972
Maprs121908972
PheGenIrs121908972
Biobankrs121908972
1000 genomesrs121908972
hgdprs121908972
ensemblrs121908972
geneviewrs121908972
scholarrs121908972
googlers121908972
pharmgkbrs121908972
gwascentralrs121908972
openSNPrs121908972
23andMers121908972
SNPshotrs121908972
SNPdbers121908972
MSV3drs121908972
GWAS Ctlgrs121908972
Max Magnitude0
OMIM602666
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121908972(T;T)
Alt rs121908972(T;T)
Reference Rs121908972(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYO15A
CLNDBN Deafness, autosomal recessive 3
Reversed 0
HGVS NC_000017.10:g.18044418G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007374.2,