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rs587777112

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777112(-;-)
Make rs587777112(-;C)
Make rs587777112(C;C)
ReferenceGRCh38 38.1/142
Chromosome3
Position184357432
GeneCLCN2
is asnp
is mentioned by
dbSNPrs587777112
ebirs587777112
HLIrs587777112
Exacrs587777112
Varsomers587777112
Maprs587777112
PheGenIrs587777112
hapmaprs587777112
1000 genomesrs587777112
hgdprs587777112
ensemblrs587777112
gopubmedrs587777112
geneviewrs587777112
scholarrs587777112
googlers587777112
pharmgkbrs587777112
gwascentralrs587777112
openSNPrs587777112
23andMers587777112
23andMe allrs587777112
SNP Nexus

SNPshotrs587777112
SNPdbers587777112
MSV3drs587777112
GWAS Ctlgrs587777112
Max Magnitude0
ClinVar
Risk rs587777112(C;C)
Alt rs587777112(C;C)
Reference rs587777112(;)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 0
HGVS NC_000003.11:g.184075220dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000087032.4,