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rs151340627

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151340627(A;A)
Make rs151340627(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position50086551
GeneCLCN5
is asnp
is mentioned by
dbSNPrs151340627
ebirs151340627
HLIrs151340627
Exacrs151340627
Varsomers151340627
Maprs151340627
PheGenIrs151340627
hapmaprs151340627
1000 genomesrs151340627
hgdprs151340627
ensemblrs151340627
gopubmedrs151340627
geneviewrs151340627
scholarrs151340627
googlers151340627
pharmgkbrs151340627
gwascentralrs151340627
openSNPrs151340627
23andMers151340627
23andMe allrs151340627
SNP Nexus

SNPshotrs151340627
SNPdbers151340627
MSV3drs151340627
GWAS Ctlgrs151340627
Max Magnitude0
OMIM300008
Desc
Variant0008
Relatedalso
ClinVar
Risk rs151340627(A;A)
Alt rs151340627(A;A)
Reference rs151340627(G;G)
Significance Pathogenic
Disease Proteinuria
Variation info
Gene CLCN5
CLNDBN Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Reversed 0
HGVS NC_000023.10:g.49851208G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012571.14,