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rs587777057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777057(A;A)
Make rs587777057(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position56336744
GeneGNAO1
is asnp
is mentioned by
dbSNPrs587777057
dbSNP (classic)rs587777057
ClinGenrs587777057
ebirs587777057
HLIrs587777057
Exacrs587777057
Gnomadrs587777057
Varsomers587777057
LitVarrs587777057
Maprs587777057
PheGenIrs587777057
Biobankrs587777057
1000 genomesrs587777057
hgdprs587777057
ensemblrs587777057
geneviewrs587777057
scholarrs587777057
googlers587777057
pharmgkbrs587777057
gwascentralrs587777057
openSNPrs587777057
23andMers587777057
SNPshotrs587777057
SNPdbers587777057
MSV3drs587777057
GWAS Ctlgrs587777057
Max Magnitude0
ClinVar
Risk rs587777057(A;A)
Alt rs587777057(A;A)
Reference Rs587777057(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 17 not provided Early infantile epileptic encephalopathy
Variation info
Gene GNAO1
CLNDBN Early infantile epileptic encephalopathy 17 not provided Early infantile epileptic encephalopathy
Reversed 0
HGVS NC_000016.9:g.56370656G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056408.24, RCV000255097.1, RCV000468248.1,