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rs121908971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908971(G;T)
Make rs121908971(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position18122113
GeneMYO15A
is asnp
is mentioned by
dbSNPrs121908971
dbSNP (classic)rs121908971
ClinGenrs121908971
ebirs121908971
HLIrs121908971
Exacrs121908971
Gnomadrs121908971
Varsomers121908971
LitVarrs121908971
Maprs121908971
PheGenIrs121908971
Biobankrs121908971
1000 genomesrs121908971
hgdprs121908971
ensemblrs121908971
geneviewrs121908971
scholarrs121908971
googlers121908971
pharmgkbrs121908971
gwascentralrs121908971
openSNPrs121908971
23andMers121908971
SNPshotrs121908971
SNPdbers121908971
MSV3drs121908971
GWAS Ctlgrs121908971
Max Magnitude0
OMIM602666
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908971(T;T)
Alt rs121908971(T;T)
Reference Rs121908971(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYO15A
CLNDBN Deafness, autosomal recessive 3
Reversed 0
HGVS NC_000017.10:g.18025427G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007372.2,