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rs151340629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151340629(G;T)
Make rs151340629(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position50072553
GeneCLCN5
is asnp
is mentioned by
dbSNPrs151340629
dbSNP (classic)rs151340629
ClinGenrs151340629
ebirs151340629
HLIrs151340629
Exacrs151340629
Gnomadrs151340629
Varsomers151340629
LitVarrs151340629
Maprs151340629
PheGenIrs151340629
Biobankrs151340629
1000 genomesrs151340629
hgdprs151340629
ensemblrs151340629
geneviewrs151340629
scholarrs151340629
googlers151340629
pharmgkbrs151340629
gwascentralrs151340629
openSNPrs151340629
23andMers151340629
SNPshotrs151340629
SNPdbers151340629
MSV3drs151340629
GWAS Ctlgrs151340629
Max Magnitude0
ClinVar
Risk rs151340629(T;T)
Alt rs151340629(T;T)
Reference Rs151340629(G;G)
Significance Pathogenic
Disease Nephrolithiasis
Variation info
Gene CLCN5
CLNDBN Nephrolithiasis, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.49837208G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012574.24,