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rs587777162

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777162(C;T)
Make rs587777162(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome20
Position63495972
GeneEEF1A2
is asnp
is mentioned by
dbSNPrs587777162
ebirs587777162
HLIrs587777162
Exacrs587777162
Varsomers587777162
Maprs587777162
PheGenIrs587777162
hapmaprs587777162
1000 genomesrs587777162
hgdprs587777162
ensemblrs587777162
gopubmedrs587777162
geneviewrs587777162
scholarrs587777162
googlers587777162
pharmgkbrs587777162
gwascentralrs587777162
openSNPrs587777162
23andMers587777162
23andMe allrs587777162
SNP Nexus

SNPshotrs587777162
SNPdbers587777162
MSV3drs587777162
GWAS Ctlgrs587777162
Max Magnitude0
ClinVar
Risk rs587777162(C,T;C,T)
Alt rs587777162(C,T;C,T)
Reference rs587777162(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene EEF1A2
CLNDBN Epileptic encephalopathy, early infantile, 33
Reversed 1
HGVS NC_000020.10:g.62127325C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087144.4,