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rs863225249

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225249(C;C)
Make rs863225249(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position184358742
GeneCLCN2
is asnp
is mentioned by
dbSNPrs863225249
ebirs863225249
HLIrs863225249
Exacrs863225249
Varsomers863225249
Maprs863225249
PheGenIrs863225249
hapmaprs863225249
1000 genomesrs863225249
hgdprs863225249
ensemblrs863225249
gopubmedrs863225249
geneviewrs863225249
scholarrs863225249
googlers863225249
pharmgkbrs863225249
gwascentralrs863225249
openSNPrs863225249
23andMers863225249
23andMe allrs863225249
SNP Nexus

SNPshotrs863225249
SNPdbers863225249
MSV3drs863225249
GWAS Ctlgrs863225249
Max Magnitude0
ClinVar
Risk rs863225249(C;C)
Alt rs863225249(C;C)
Reference rs863225249(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 1
HGVS NC_000003.11:g.184076530C>G
CLNSRC
CLNACC RCV000201841.1,