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rs151340630

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151340630(G;T)
Make rs151340630(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position50086035
GeneCLCN5
is asnp
is mentioned by
dbSNPrs151340630
ebirs151340630
HLIrs151340630
Exacrs151340630
Varsomers151340630
Maprs151340630
PheGenIrs151340630
hapmaprs151340630
1000 genomesrs151340630
hgdprs151340630
ensemblrs151340630
gopubmedrs151340630
geneviewrs151340630
scholarrs151340630
googlers151340630
pharmgkbrs151340630
gwascentralrs151340630
openSNPrs151340630
23andMers151340630
23andMe allrs151340630
SNP Nexus

SNPshotrs151340630
SNPdbers151340630
MSV3drs151340630
GWAS Ctlgrs151340630
Max Magnitude0
ClinVar
Risk rs151340630(T;T)
Alt rs151340630(T;T)
Reference rs151340630(G;G)
Significance Pathogenic
Disease Dent disease 1
Variation info
Gene CLCN5
CLNDBN Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49850692G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012576.15,