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rs121908350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908350(C;T)
Make rs121908350(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position71732151
GeneCDH23, C10orf105
is asnp
is mentioned by
dbSNPrs121908350
dbSNP (classic)rs121908350
ClinGenrs121908350
ebirs121908350
HLIrs121908350
Exacrs121908350
Gnomadrs121908350
Varsomers121908350
LitVarrs121908350
Maprs121908350
PheGenIrs121908350
Biobankrs121908350
1000 genomesrs121908350
hgdprs121908350
ensemblrs121908350
geneviewrs121908350
scholarrs121908350
googlers121908350
pharmgkbrs121908350
gwascentralrs121908350
openSNPrs121908350
23andMers121908350
SNPshotrs121908350
SNPdbers121908350
MSV3drs121908350
GWAS Ctlgrs121908350
Max Magnitude0
OMIM605516
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908350(T;T)
Alt rs121908350(T;T)
Reference Rs121908350(C;C)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene C10orf105 CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73491908C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005203.3,