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rs151340626

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs151340626(C;T)
Make rs151340626(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position50085987
GeneCLCN5
is asnp
is mentioned by
dbSNPrs151340626
ebirs151340626
HLIrs151340626
Exacrs151340626
Varsomers151340626
Maprs151340626
PheGenIrs151340626
hapmaprs151340626
1000 genomesrs151340626
hgdprs151340626
ensemblrs151340626
gopubmedrs151340626
geneviewrs151340626
scholarrs151340626
googlers151340626
pharmgkbrs151340626
gwascentralrs151340626
openSNPrs151340626
23andMers151340626
23andMe allrs151340626
SNP Nexus

SNPshotrs151340626
SNPdbers151340626
MSV3drs151340626
GWAS Ctlgrs151340626
Max Magnitude0
ClinVar
Risk rs151340626(T;T)
Alt rs151340626(T;T)
Reference rs151340626(C;C)
Significance Pathogenic
Disease Hypophosphatemic rickets Dent disease 1
Variation info
Gene CLCN5
CLNDBN Hypophosphatemic rickets, X-linked recessive Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49850644C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012570.23, RCV000192274.1,