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rs797044811

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044811(C;T)
Make rs797044811(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position50088749
GeneCLCN5
is asnp
is mentioned by
dbSNPrs797044811
ebirs797044811
HLIrs797044811
Exacrs797044811
Varsomers797044811
Maprs797044811
PheGenIrs797044811
hapmaprs797044811
1000 genomesrs797044811
hgdprs797044811
ensemblrs797044811
gopubmedrs797044811
geneviewrs797044811
scholarrs797044811
googlers797044811
pharmgkbrs797044811
gwascentralrs797044811
openSNPrs797044811
23andMers797044811
23andMe allrs797044811
SNP Nexus

SNPshotrs797044811
SNPdbers797044811
MSV3drs797044811
GWAS Ctlgrs797044811
Max Magnitude0
ClinVar
Risk rs797044811(T;T)
Alt rs797044811(T;T)
Reference rs797044811(C;C)
Significance Pathogenic
Disease Dent disease 1
Variation info
Gene CLCN5
CLNDBN Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49853406C>T
CLNSRC
CLNACC RCV000192277.1,