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rs797044812

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044812(C;T)
Make rs797044812(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position50090127
GeneCLCN5
is asnp
is mentioned by
dbSNPrs797044812
ebirs797044812
HLIrs797044812
Exacrs797044812
Varsomers797044812
Maprs797044812
PheGenIrs797044812
hapmaprs797044812
1000 genomesrs797044812
hgdprs797044812
ensemblrs797044812
gopubmedrs797044812
geneviewrs797044812
scholarrs797044812
googlers797044812
pharmgkbrs797044812
gwascentralrs797044812
openSNPrs797044812
23andMers797044812
23andMe allrs797044812
SNP Nexus

SNPshotrs797044812
SNPdbers797044812
MSV3drs797044812
GWAS Ctlgrs797044812
Max Magnitude0
ClinVar
Risk rs797044812(T;T)
Alt rs797044812(T;T)
Reference rs797044812(C;C)
Significance Probable-Pathogenic
Disease Dent disease 1
Variation info
Gene CLCN5
CLNDBN Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49854784C>T
CLNSRC
CLNACC RCV000192278.1,