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rs375907609

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs375907609(C;T)
Make rs375907609(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position71811364
GeneCDH23
is asnp
is mentioned by
dbSNPrs375907609
dbSNP (classic)rs375907609
ClinGenrs375907609
ebirs375907609
HLIrs375907609
Exacrs375907609
Gnomadrs375907609
Varsomers375907609
LitVarrs375907609
Maprs375907609
PheGenIrs375907609
Biobankrs375907609
1000 genomesrs375907609
hgdprs375907609
ensemblrs375907609
geneviewrs375907609
scholarrs375907609
googlers375907609
pharmgkbrs375907609
gwascentralrs375907609
openSNPrs375907609
23andMers375907609
SNPshotrs375907609
SNPdbers375907609
MSV3drs375907609
GWAS Ctlgrs375907609
Max Magnitude0
ClinVar
Risk rs375907609(A;A) rs375907609(T;T)
Alt rs375907609(A;A) rs375907609(T;T)
Reference Rs375907609(C;C)
Significance Probable-Pathogenic
Disease Usher syndrome
Variation info
Gene CDH23
CLNDBN Usher syndrome, type 1
Reversed 0
HGVS NC_000010.10:g.73571121C>T
CLNSRC
CLNACC RCV000214890.1,