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rs863225253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225253(-;-)
Make rs863225253(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position184355396
GeneCLCN2
is asnp
is mentioned by
dbSNPrs863225253
dbSNP (classic)rs863225253
ClinGenrs863225253
ebirs863225253
HLIrs863225253
Exacrs863225253
Gnomadrs863225253
Varsomers863225253
LitVarrs863225253
Maprs863225253
PheGenIrs863225253
Biobankrs863225253
1000 genomesrs863225253
hgdprs863225253
ensemblrs863225253
geneviewrs863225253
scholarrs863225253
googlers863225253
pharmgkbrs863225253
gwascentralrs863225253
openSNPrs863225253
23andMers863225253
SNPshotrs863225253
SNPdbers863225253
MSV3drs863225253
GWAS Ctlgrs863225253
Max Magnitude0
ClinVar
Risk rs863225253(-;-)
Alt rs863225253(-;-)
Reference Rs863225253(T;T)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 1
HGVS NC_000003.11:g.184073184delA
CLNSRC
CLNACC RCV000201817.1,