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rs727502931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727502931(A;A)
Make rs727502931(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position71799634
GeneCDH23
is asnp
is mentioned by
dbSNPrs727502931
dbSNP (classic)rs727502931
ClinGenrs727502931
ebirs727502931
HLIrs727502931
Exacrs727502931
Gnomadrs727502931
Varsomers727502931
LitVarrs727502931
Maprs727502931
PheGenIrs727502931
Biobankrs727502931
1000 genomesrs727502931
hgdprs727502931
ensemblrs727502931
geneviewrs727502931
scholarrs727502931
googlers727502931
pharmgkbrs727502931
gwascentralrs727502931
openSNPrs727502931
23andMers727502931
SNPshotrs727502931
SNPdbers727502931
MSV3drs727502931
GWAS Ctlgrs727502931
Max Magnitude0
ClinVar
Risk rs727502931(A;A)
Alt rs727502931(A;A)
Reference Rs727502931(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73559391G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005200.4,