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rs151340623

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs151340623(C;C)
Make rs151340623(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position50090139
GeneCLCN5
is asnp
is mentioned by
dbSNPrs151340623
ebirs151340623
HLIrs151340623
Exacrs151340623
Varsomers151340623
Maprs151340623
PheGenIrs151340623
hapmaprs151340623
1000 genomesrs151340623
hgdprs151340623
ensemblrs151340623
gopubmedrs151340623
geneviewrs151340623
scholarrs151340623
googlers151340623
pharmgkbrs151340623
gwascentralrs151340623
openSNPrs151340623
23andMers151340623
23andMe allrs151340623
SNP Nexus

SNPshotrs151340623
SNPdbers151340623
MSV3drs151340623
GWAS Ctlgrs151340623
Max Magnitude0
ClinVar
Risk rs151340623(C;C)
Alt rs151340623(C;C)
Reference rs151340623(T;T)
Significance Pathogenic
Disease Dent disease 1
Variation info
Gene CLCN5
CLNDBN Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49854796T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012567.22,