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rs71318369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs71318369(C;T)
Make rs71318369(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position184357688
GeneCLCN2
is asnp
is mentioned by
dbSNPrs71318369
ebirs71318369
HLIrs71318369
Exacrs71318369
Varsomers71318369
Maprs71318369
PheGenIrs71318369
hapmaprs71318369
1000 genomesrs71318369
hgdprs71318369
ensemblrs71318369
gopubmedrs71318369
geneviewrs71318369
scholarrs71318369
googlers71318369
pharmgkbrs71318369
gwascentralrs71318369
openSNPrs71318369
23andMers71318369
23andMe allrs71318369
SNP Nexus

SNPshotrs71318369
SNPdbers71318369
MSV3drs71318369
GWAS Ctlgrs71318369
GMAF0.0004591
Max Magnitude0
OMIM600570
Desc
Variant0004
Relatedalso
ClinVar
Risk rs71318369(T;T)
Alt rs71318369(T;T)
Reference rs71318369(C;C)
Significance Other
Disease Epilepsy Leukoencephalopathy with ataxia
Variation info
Gene CLCN2
CLNDBN Epilepsy, juvenile myoclonic 8 Leukoencephalopathy with ataxia
Reversed 0
HGVS NC_000003.11:g.184075476C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009605.2, RCV000201836.1,