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rs771507094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs771507094(C;T)
Make rs771507094(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position184354643
GeneCLCN2
is asnp
is mentioned by
dbSNPrs771507094
dbSNP (classic)rs771507094
ClinGenrs771507094
ebirs771507094
HLIrs771507094
Exacrs771507094
Gnomadrs771507094
Varsomers771507094
LitVarrs771507094
Maprs771507094
PheGenIrs771507094
Biobankrs771507094
1000 genomesrs771507094
hgdprs771507094
ensemblrs771507094
geneviewrs771507094
scholarrs771507094
googlers771507094
pharmgkbrs771507094
gwascentralrs771507094
openSNPrs771507094
23andMers771507094
SNPshotrs771507094
SNPdbers771507094
MSV3drs771507094
GWAS Ctlgrs771507094
Max Magnitude0
ClinVar
Risk rs771507094(T;T)
Alt rs771507094(T;T)
Reference Rs771507094(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 0
HGVS NC_000003.11:g.184072431C>T
CLNSRC
CLNACC RCV000201810.1,