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rs515726131

From SNPedia

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Geno Mag Summary
(;) 0 common in clinvar
Make rs515726131(-;-)
Make rs515726131(-;C)
Make rs515726131(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position184357980
GeneCLCN2
is asnp
is mentioned by
dbSNPrs515726131
ebirs515726131
HLIrs515726131
Exacrs515726131
Varsomers515726131
Maprs515726131
PheGenIrs515726131
hapmaprs515726131
1000 genomesrs515726131
hgdprs515726131
ensemblrs515726131
gopubmedrs515726131
geneviewrs515726131
scholarrs515726131
googlers515726131
pharmgkbrs515726131
gwascentralrs515726131
openSNPrs515726131
23andMers515726131
23andMe allrs515726131
SNP Nexus

SNPshotrs515726131
SNPdbers515726131
MSV3drs515726131
GWAS Ctlgrs515726131
Max Magnitude0
ClinVar
Risk rs515726131(C;C)
Alt rs515726131(C;C)
Reference rs515726131(;)
Significance Probable-Pathogenic
Disease Epilepsy Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Epilepsy, juvenile myoclonic 8 Leukoencephalopathy with ataxia
Reversed 0
HGVS NC_000003.11:g.184075768dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009602.3, RCV000201815.1,