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rs863225286

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225286(C;C)
Make rs863225286(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position80202243
GenePRDM8
is asnp
is mentioned by
dbSNPrs863225286
ebirs863225286
HLIrs863225286
Exacrs863225286
Varsomers863225286
Maprs863225286
PheGenIrs863225286
hapmaprs863225286
1000 genomesrs863225286
hgdprs863225286
ensemblrs863225286
gopubmedrs863225286
geneviewrs863225286
scholarrs863225286
googlers863225286
pharmgkbrs863225286
gwascentralrs863225286
openSNPrs863225286
23andMers863225286
23andMe allrs863225286
SNP Nexus

SNPshotrs863225286
SNPdbers863225286
MSV3drs863225286
GWAS Ctlgrs863225286
Max Magnitude0
ClinVar
Risk rs863225286(C;C)
Alt rs863225286(C;C)
Reference rs863225286(T;T)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene PRDM8
CLNDBN Epilepsy, progressive myoclonic, 10
Reversed 0
HGVS NC_000004.11:g.81123397T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201931.2,