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rs786205866

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205866(A;A)
Make rs786205866(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome20
Position63495062
GeneEEF1A2
is asnp
is mentioned by
dbSNPrs786205866
ebirs786205866
HLIrs786205866
Exacrs786205866
Varsomers786205866
Maprs786205866
PheGenIrs786205866
hapmaprs786205866
1000 genomesrs786205866
hgdprs786205866
ensemblrs786205866
gopubmedrs786205866
geneviewrs786205866
scholarrs786205866
googlers786205866
pharmgkbrs786205866
gwascentralrs786205866
openSNPrs786205866
23andMers786205866
23andMe allrs786205866
SNP Nexus

SNPshotrs786205866
SNPdbers786205866
MSV3drs786205866
GWAS Ctlgrs786205866
Max Magnitude0
ClinVar
Risk rs786205866(A;A)
Alt rs786205866(A;A)
Reference rs786205866(G;G)
Significance Pathogenic
Disease Mental retardation Epileptic encephalopathy
Variation info
Gene EEF1A2
CLNDBN Mental retardation, autosomal dominant 38 Epileptic encephalopathy, early infantile, 33
Reversed 1
HGVS NC_000020.10:g.62126415C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000172840.2, RCV000193799.1,