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rs869312826

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312826(A;A)
Make rs869312826(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position1787378
GeneGNB1
is asnp
is mentioned by
dbSNPrs869312826
ebirs869312826
HLIrs869312826
Exacrs869312826
Varsomers869312826
Maprs869312826
PheGenIrs869312826
hapmaprs869312826
1000 genomesrs869312826
hgdprs869312826
ensemblrs869312826
gopubmedrs869312826
geneviewrs869312826
scholarrs869312826
googlers869312826
pharmgkbrs869312826
gwascentralrs869312826
openSNPrs869312826
23andMers869312826
23andMe allrs869312826
SNP Nexus

SNPshotrs869312826
SNPdbers869312826
MSV3drs869312826
GWAS Ctlgrs869312826
Max Magnitude0
ClinVar
Risk rs869312826(A;A)
Alt rs869312826(A;A)
Reference rs869312826(G;G)
Significance Pathogenic
Disease Generalized tonic-clonic seizures Global developmental delay Intellectual disability Muscular hypotonia Seizures
Variation info
Gene GNB1
CLNDBN Generalized tonic-clonic seizures Global developmental delay Intellectual disability Muscular hypotonia Seizures
Reversed 1
HGVS NC_000001.10:g.1718817C>T
CLNSRC
CLNACC RCV000210260.1,