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rs587777111

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777111(A;A)
Make rs587777111(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position184354556
GeneCLCN2
is asnp
is mentioned by
dbSNPrs587777111
ebirs587777111
HLIrs587777111
Exacrs587777111
Varsomers587777111
Maprs587777111
PheGenIrs587777111
hapmaprs587777111
1000 genomesrs587777111
hgdprs587777111
ensemblrs587777111
gopubmedrs587777111
geneviewrs587777111
scholarrs587777111
googlers587777111
pharmgkbrs587777111
gwascentralrs587777111
openSNPrs587777111
23andMers587777111
23andMe allrs587777111
SNP Nexus

SNPshotrs587777111
SNPdbers587777111
MSV3drs587777111
GWAS Ctlgrs587777111
Max Magnitude0
ClinVar
Risk rs587777111(A,T;A,T)
Alt rs587777111(A,T;A,T)
Reference rs587777111(G;G)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 0
HGVS NC_000003.11:g.184072344G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000087031.4,