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rs587777110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTCATCA;CTCATCA) 0 common in clinvar
(GATGAG;GATGAG) 0 common in clinvar
Make rs587777110(-;-)
Make rs587777110(-;GATGAG)
ReferenceGRCh38 38.1/142
Chromosome3
Position184358228
GeneCLCN2
is asnp
is mentioned by
dbSNPrs587777110
ebirs587777110
HLIrs587777110
Exacrs587777110
Varsomers587777110
Maprs587777110
PheGenIrs587777110
hapmaprs587777110
1000 genomesrs587777110
hgdprs587777110
ensemblrs587777110
gopubmedrs587777110
geneviewrs587777110
scholarrs587777110
googlers587777110
pharmgkbrs587777110
gwascentralrs587777110
openSNPrs587777110
23andMers587777110
23andMe allrs587777110
SNP Nexus

SNPshotrs587777110
SNPdbers587777110
MSV3drs587777110
GWAS Ctlgrs587777110
Max Magnitude0
ClinVar
Risk rs587777110(GATGAGA,A;GATGAGA,A)
Alt rs587777110(GATGAGA,A;GATGAGA,A)
Reference rs587777110(CTCATCA;CTCATCA)
Significance Pathogenic
Disease Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Leukoencephalopathy with ataxia
Reversed 1
HGVS NC_000003.11:g.184076016_184076021delGATGAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000087030.4,