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rs863225256

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225256(A;T)
Make rs863225256(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position184353321
GeneCLCN2
is asnp
is mentioned by
dbSNPrs863225256
dbSNP (classic)rs863225256
ClinGenrs863225256
ebirs863225256
HLIrs863225256
Exacrs863225256
Gnomadrs863225256
Varsomers863225256
LitVarrs863225256
Maprs863225256
PheGenIrs863225256
Biobankrs863225256
1000 genomesrs863225256
hgdprs863225256
ensemblrs863225256
geneviewrs863225256
scholarrs863225256
googlers863225256
pharmgkbrs863225256
gwascentralrs863225256
openSNPrs863225256
23andMers863225256
SNPshotrs863225256
SNPdbers863225256
MSV3drs863225256
GWAS Ctlgrs863225256
Max Magnitude0
ClinVar
Risk rs863225256(T;T)
Alt rs863225256(T;T)
Reference Rs863225256(A;A)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 1
HGVS NC_000003.11:g.184071109T>A
CLNSRC
CLNACC RCV000201808.1,