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rs863225251

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225251(ACTGCTCAT;ACTGCTCAT)
Make rs863225251(ACTGCTCAT;C)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position184355751
GeneCLCN2
is asnp
is mentioned by
dbSNPrs863225251
dbSNP (old)rs863225251
ClinGenrs863225251
ebirs863225251
HLIrs863225251
Exacrs863225251
Varsomers863225251
Maprs863225251
PheGenIrs863225251
Biobankrs863225251
1000 genomesrs863225251
hgdprs863225251
ensemblrs863225251
gopubmedrs863225251
geneviewrs863225251
scholarrs863225251
googlers863225251
pharmgkbrs863225251
gwascentralrs863225251
openSNPrs863225251
23andMers863225251
23andMe allrs863225251
SNP Nexus

SNPshotrs863225251
SNPdbers863225251
MSV3drs863225251
GWAS Ctlgrs863225251
Max Magnitude0
ClinVar
Risk rs863225251(ACTGCTCAT;ACTGCTCAT)
Alt rs863225251(ACTGCTCAT;ACTGCTCAT)
Reference Rs863225251(C;C)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 1
HGVS NC_000003.11:g.184073539delGinsATGAGCAGT
CLNSRC
CLNACC RCV000201830.1,