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rs121908969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908969(G;T)
Make rs121908969(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position18154190
GeneLOC105371567, LOC105371568, MYO15A
is asnp
is mentioned by
dbSNPrs121908969
dbSNP (classic)rs121908969
ClinGenrs121908969
ebirs121908969
HLIrs121908969
Exacrs121908969
Gnomadrs121908969
Varsomers121908969
LitVarrs121908969
Maprs121908969
PheGenIrs121908969
Biobankrs121908969
1000 genomesrs121908969
hgdprs121908969
ensemblrs121908969
geneviewrs121908969
scholarrs121908969
googlers121908969
pharmgkbrs121908969
gwascentralrs121908969
openSNPrs121908969
23andMers121908969
SNPshotrs121908969
SNPdbers121908969
MSV3drs121908969
GWAS Ctlgrs121908969
Max Magnitude0
OMIM602666
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908969(T;T)
Alt rs121908969(T;T)
Reference Rs121908969(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene MYO15A
CLNDBN Deafness, autosomal recessive 3
Reversed 0
HGVS NC_000017.10:g.18057504G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007370.2,