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rs797044814

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044814(C;T)
Make rs797044814(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position50092130
GeneCLCN5
is asnp
is mentioned by
dbSNPrs797044814
ebirs797044814
HLIrs797044814
Exacrs797044814
Varsomers797044814
Maprs797044814
PheGenIrs797044814
hapmaprs797044814
1000 genomesrs797044814
hgdprs797044814
ensemblrs797044814
gopubmedrs797044814
geneviewrs797044814
scholarrs797044814
googlers797044814
pharmgkbrs797044814
gwascentralrs797044814
openSNPrs797044814
23andMers797044814
23andMe allrs797044814
SNP Nexus

SNPshotrs797044814
SNPdbers797044814
MSV3drs797044814
GWAS Ctlgrs797044814
Max Magnitude0
ClinVar
Risk rs797044814(T;T)
Alt rs797044814(T;T)
Reference rs797044814(C;C)
Significance Pathogenic
Disease Dent disease 1
Variation info
Gene CLCN5
CLNDBN Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49856787C>T
CLNSRC
CLNACC RCV000192280.1,