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rs797044813

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044813(C;T)
Make rs797044813(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position50090490
GeneCLCN5
is asnp
is mentioned by
dbSNPrs797044813
ebirs797044813
HLIrs797044813
Exacrs797044813
Varsomers797044813
Maprs797044813
PheGenIrs797044813
hapmaprs797044813
1000 genomesrs797044813
hgdprs797044813
ensemblrs797044813
gopubmedrs797044813
geneviewrs797044813
scholarrs797044813
googlers797044813
pharmgkbrs797044813
gwascentralrs797044813
openSNPrs797044813
23andMers797044813
23andMe allrs797044813
SNP Nexus

SNPshotrs797044813
SNPdbers797044813
MSV3drs797044813
GWAS Ctlgrs797044813
Max Magnitude0
ClinVar
Risk rs797044813(T;T)
Alt rs797044813(T;T)
Reference rs797044813(C;C)
Significance Pathogenic
Disease Dent disease 1
Variation info
Gene CLCN5
CLNDBN Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49855147C>T
CLNSRC
CLNACC RCV000192279.1,