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rs886039494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886039494(C;T)
Make rs886039494(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position56336762
GeneGNAO1
is asnp
is mentioned by
dbSNPrs886039494
dbSNP (classic)rs886039494
ClinGenrs886039494
ebirs886039494
HLIrs886039494
Exacrs886039494
Gnomadrs886039494
Varsomers886039494
LitVarrs886039494
Maprs886039494
PheGenIrs886039494
Biobankrs886039494
1000 genomesrs886039494
hgdprs886039494
ensemblrs886039494
geneviewrs886039494
scholarrs886039494
googlers886039494
pharmgkbrs886039494
gwascentralrs886039494
openSNPrs886039494
23andMers886039494
23andMe allrs886039494
SNPshotrs886039494
SNPdbers886039494
MSV3drs886039494
GWAS Ctlgrs886039494
Max Magnitude0
ClinVar
Risk rs886039494(G;G) rs886039494(T;T)
Alt rs886039494(G;G) rs886039494(T;T)
Reference Rs886039494(C;C)
Significance Pathogenic
Disease Neurodevelopmental disorder with involuntary movements not provided Early infantile epileptic encephalopathy
Variation info
Gene GNAO1
CLNDBN Neurodevelopmental disorder with involuntary movements not provided Early infantile epileptic encephalopathy
Reversed 0
HGVS NC_000016.9:g.56370674C>G; NC_000016.9:g.56370674C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000490630.1, RCV000256155.1, RCV000475848.1, RCV000490628.1,