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rs797044810

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044810(C;T)
Make rs797044810(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position50086562
GeneCLCN5
is asnp
is mentioned by
dbSNPrs797044810
ebirs797044810
HLIrs797044810
Exacrs797044810
Varsomers797044810
Maprs797044810
PheGenIrs797044810
hapmaprs797044810
1000 genomesrs797044810
hgdprs797044810
ensemblrs797044810
gopubmedrs797044810
geneviewrs797044810
scholarrs797044810
googlers797044810
pharmgkbrs797044810
gwascentralrs797044810
openSNPrs797044810
23andMers797044810
23andMe allrs797044810
SNP Nexus

SNPshotrs797044810
SNPdbers797044810
MSV3drs797044810
GWAS Ctlgrs797044810
Max Magnitude0
ClinVar
Risk rs797044810(T;T)
Alt rs797044810(T;T)
Reference rs797044810(C;C)
Significance Pathogenic
Disease Dent disease 1
Variation info
Gene CLCN5
CLNDBN Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49851219C>T
CLNSRC
CLNACC RCV000192276.1,