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rs273585645

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs273585645(C;C)
Make rs273585645(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position50081798
GeneCLCN5
is asnp
is mentioned by
dbSNPrs273585645
dbSNP (classic)rs273585645
ClinGenrs273585645
ebirs273585645
HLIrs273585645
Exacrs273585645
Gnomadrs273585645
Varsomers273585645
LitVarrs273585645
Maprs273585645
PheGenIrs273585645
Biobankrs273585645
1000 genomesrs273585645
hgdprs273585645
ensemblrs273585645
geneviewrs273585645
scholarrs273585645
googlers273585645
pharmgkbrs273585645
gwascentralrs273585645
openSNPrs273585645
23andMers273585645
SNPshotrs273585645
SNPdbers273585645
MSV3drs273585645
GWAS Ctlgrs273585645
Max Magnitude0
ClinVar
Risk rs273585645(C;C)
Alt rs273585645(C;C)
Reference Rs273585645(T;T)
Significance Pathogenic
Disease Dent disease 1
Variation info
Gene CLCN5
CLNDBN Dent disease 1
Reversed 0
HGVS NC_000023.10:g.49846455T>C
CLNSRC UniProtKB (protein)
CLNACC RCV000033876.2,