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rs797045599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045599(C;T)
Make rs797045599(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position56336817
GeneGNAO1
is asnp
is mentioned by
dbSNPrs797045599
dbSNP (classic)rs797045599
ClinGenrs797045599
ebirs797045599
HLIrs797045599
Exacrs797045599
Gnomadrs797045599
Varsomers797045599
LitVarrs797045599
Maprs797045599
PheGenIrs797045599
Biobankrs797045599
1000 genomesrs797045599
hgdprs797045599
ensemblrs797045599
geneviewrs797045599
scholarrs797045599
googlers797045599
pharmgkbrs797045599
gwascentralrs797045599
openSNPrs797045599
23andMers797045599
SNPshotrs797045599
SNPdbers797045599
MSV3drs797045599
GWAS Ctlgrs797045599
Max Magnitude0
ClinVar
Risk rs797045599(T;T)
Alt rs797045599(T;T)
Reference Rs797045599(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 17 not provided
Variation info
Gene GNAO1
CLNDBN Early infantile epileptic encephalopathy 17 not provided
Reversed 0
HGVS NC_000016.9:g.56370729C>T
CLNSRC
CLNACC RCV000193275.1, RCV000493045.1,