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rs863225254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225254(A;A)
Make rs863225254(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position184354658
GeneCLCN2
is asnp
is mentioned by
dbSNPrs863225254
dbSNP (classic)rs863225254
ClinGenrs863225254
ebirs863225254
HLIrs863225254
Exacrs863225254
Gnomadrs863225254
Varsomers863225254
LitVarrs863225254
Maprs863225254
PheGenIrs863225254
Biobankrs863225254
1000 genomesrs863225254
hgdprs863225254
ensemblrs863225254
geneviewrs863225254
scholarrs863225254
googlers863225254
pharmgkbrs863225254
gwascentralrs863225254
openSNPrs863225254
23andMers863225254
SNPshotrs863225254
SNPdbers863225254
MSV3drs863225254
GWAS Ctlgrs863225254
Max Magnitude0
ClinVar
Risk rs863225254(A;A)
Alt rs863225254(A;A)
Reference Rs863225254(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 1
HGVS NC_000003.11:g.184072446C>T
CLNSRC
CLNACC RCV000201834.1,