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rs863225250

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225250(C;T)
Make rs863225250(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position184357240
GeneCLCN2
is asnp
is mentioned by
dbSNPrs863225250
ebirs863225250
HLIrs863225250
Exacrs863225250
Varsomers863225250
Maprs863225250
PheGenIrs863225250
hapmaprs863225250
1000 genomesrs863225250
hgdprs863225250
ensemblrs863225250
gopubmedrs863225250
geneviewrs863225250
scholarrs863225250
googlers863225250
pharmgkbrs863225250
gwascentralrs863225250
openSNPrs863225250
23andMers863225250
23andMe allrs863225250
SNP Nexus

SNPshotrs863225250
SNPdbers863225250
MSV3drs863225250
GWAS Ctlgrs863225250
Max Magnitude0
ClinVar
Risk rs863225250(T;T)
Alt rs863225250(T;T)
Reference rs863225250(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 1
HGVS NC_000003.11:g.184075028G>A
CLNSRC
CLNACC RCV000201803.1,