Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908347(C;C)
Make rs121908347(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position71739772
GeneCDH23, C10orf105
is asnp
is mentioned by
dbSNPrs121908347
ebirs121908347
HLIrs121908347
Exacrs121908347
Varsomers121908347
Maprs121908347
PheGenIrs121908347
hapmaprs121908347
1000 genomesrs121908347
hgdprs121908347
ensemblrs121908347
gopubmedrs121908347
geneviewrs121908347
scholarrs121908347
googlers121908347
pharmgkbrs121908347
gwascentralrs121908347
openSNPrs121908347
23andMers121908347
23andMe allrs121908347
SNP Nexus

SNPshotrs121908347
SNPdbers121908347
MSV3drs121908347
GWAS Ctlgrs121908347
Max Magnitude0
OMIM605516
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908347(C;C)
Alt rs121908347(C;C)
Reference rs121908347(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene C10orf105 CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73499529G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005197.3,