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rs727502933

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727502933(A;T)
Make rs727502933(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position71805804
GeneCDH23
is asnp
is mentioned by
dbSNPrs727502933
dbSNP (classic)rs727502933
ClinGenrs727502933
ebirs727502933
HLIrs727502933
Exacrs727502933
Gnomadrs727502933
Varsomers727502933
LitVarrs727502933
Maprs727502933
PheGenIrs727502933
Biobankrs727502933
1000 genomesrs727502933
hgdprs727502933
ensemblrs727502933
geneviewrs727502933
scholarrs727502933
googlers727502933
pharmgkbrs727502933
gwascentralrs727502933
openSNPrs727502933
23andMers727502933
SNPshotrs727502933
SNPdbers727502933
MSV3drs727502933
GWAS Ctlgrs727502933
Max Magnitude0
ClinVar
Risk rs727502933(T;T)
Alt rs727502933(T;T)
Reference Rs727502933(A;A)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73565561A>T
CLNSRC
CLNACC RCV000150322.1,