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rs1060499714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499714(A;A)
Make rs1060499714(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position71687646
GeneCDH23
is asnp
is mentioned by
dbSNPrs1060499714
dbSNP (classic)rs1060499714
ClinGenrs1060499714
ebirs1060499714
HLIrs1060499714
Exacrs1060499714
Gnomadrs1060499714
Varsomers1060499714
LitVarrs1060499714
Maprs1060499714
PheGenIrs1060499714
Biobankrs1060499714
1000 genomesrs1060499714
hgdprs1060499714
ensemblrs1060499714
geneviewrs1060499714
scholarrs1060499714
googlers1060499714
pharmgkbrs1060499714
gwascentralrs1060499714
openSNPrs1060499714
23andMers1060499714
SNPshotrs1060499714
SNPdbers1060499714
MSV3drs1060499714
GWAS Ctlgrs1060499714
Max Magnitude0
ClinVar
Risk rs1060499714(A;A)
Alt rs1060499714(A;A)
Reference Rs1060499714(G;G)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1D
Reversed 0
HGVS NC_000010.10:g.73447403G>A
CLNSRC
CLNACC RCV000449554.1,