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rs869312822

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312822(G;G)
Make rs869312822(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position1806514
GeneGNB1
is asnp
is mentioned by
dbSNPrs869312822
ebirs869312822
HLIrs869312822
Exacrs869312822
Varsomers869312822
Maprs869312822
PheGenIrs869312822
hapmaprs869312822
1000 genomesrs869312822
hgdprs869312822
ensemblrs869312822
gopubmedrs869312822
geneviewrs869312822
scholarrs869312822
googlers869312822
pharmgkbrs869312822
gwascentralrs869312822
openSNPrs869312822
23andMers869312822
23andMe allrs869312822
SNP Nexus

SNPshotrs869312822
SNPdbers869312822
MSV3drs869312822
GWAS Ctlgrs869312822
Max Magnitude0
ClinVar
Risk rs869312822(G;G)
Alt rs869312822(G;G)
Reference rs869312822(T;T)
Significance Pathogenic
Disease Failure to thrive Focal seizures with impairment of consciousness or awareness Global developmental delay Limb hypertonia Seizures Strabismus
Variation info
Gene GNB1
CLNDBN Failure to thrive Focal seizures with impairment of consciousness or awareness Global developmental delay Limb hypertonia Seizures Strabismus
Reversed 1
HGVS NC_000001.10:g.1737953A>C
CLNSRC
CLNACC RCV000210277.1,