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rs797044808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044808(C;T)
Make rs797044808(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position50070025
GeneCLCN5
is asnp
is mentioned by
dbSNPrs797044808
dbSNP (classic)rs797044808
ClinGenrs797044808
ebirs797044808
HLIrs797044808
Exacrs797044808
Gnomadrs797044808
Varsomers797044808
LitVarrs797044808
Maprs797044808
PheGenIrs797044808
Biobankrs797044808
1000 genomesrs797044808
hgdprs797044808
ensemblrs797044808
geneviewrs797044808
scholarrs797044808
googlers797044808
pharmgkbrs797044808
gwascentralrs797044808
openSNPrs797044808
23andMers797044808
SNPshotrs797044808
SNPdbers797044808
MSV3drs797044808
GWAS Ctlgrs797044808
Max Magnitude0
ClinVar
Risk rs797044808(T;T)
Alt rs797044808(T;T)
Reference Rs797044808(C;C)
Significance Pathogenic
Disease Dent disease 1
Variation info
Gene CLCN5
CLNDBN Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49834680C>T
CLNSRC
CLNACC RCV000192273.1,