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rs1057518678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518678(A;G)
Make rs1057518678(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position56336829
GeneGNAO1
is asnp
is mentioned by
dbSNPrs1057518678
dbSNP (classic)rs1057518678
ClinGenrs1057518678
ebirs1057518678
HLIrs1057518678
Exacrs1057518678
Gnomadrs1057518678
Varsomers1057518678
LitVarrs1057518678
Maprs1057518678
PheGenIrs1057518678
Biobankrs1057518678
1000 genomesrs1057518678
hgdprs1057518678
ensemblrs1057518678
geneviewrs1057518678
scholarrs1057518678
googlers1057518678
pharmgkbrs1057518678
gwascentralrs1057518678
openSNPrs1057518678
23andMers1057518678
SNPshotrs1057518678
SNPdbers1057518678
MSV3drs1057518678
GWAS Ctlgrs1057518678
Max Magnitude0
ClinVar
Risk rs1057518678(G;G)
Alt rs1057518678(G;G)
Reference Rs1057518678(A;A)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy 17
Variation info
Gene GNAO1
CLNDBN Early infantile epileptic encephalopathy 17
Reversed 0
HGVS NC_000016.9:g.56370741A>G
CLNSRC
CLNACC RCV000414910.1,