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rs869312825

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312825(A;G)
Make rs869312825(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position1804548
GeneGNB1
is asnp
is mentioned by
dbSNPrs869312825
ebirs869312825
HLIrs869312825
Exacrs869312825
Varsomers869312825
Maprs869312825
PheGenIrs869312825
hapmaprs869312825
1000 genomesrs869312825
hgdprs869312825
ensemblrs869312825
gopubmedrs869312825
geneviewrs869312825
scholarrs869312825
googlers869312825
pharmgkbrs869312825
gwascentralrs869312825
openSNPrs869312825
23andMers869312825
23andMe allrs869312825
SNP Nexus

SNPshotrs869312825
SNPdbers869312825
MSV3drs869312825
GWAS Ctlgrs869312825
Max Magnitude0
ClinVar
Risk rs869312825(G;G)
Alt rs869312825(G;G)
Reference rs869312825(A;A)
Significance Pathogenic
Disease Developmental regression EEG with generalized epileptiform discharges Expressive language delay Focal seizures with impairment of consciousness or awareness Generalized tonic-clonic seizures Global developmental delay Intellectual disability Multifocal epileptiform discharges Muscular hypotonia Seizures Mental retardation
Variation info
Gene GNB1
CLNDBN Developmental regression EEG with generalized epileptiform discharges Expressive language delay Focal seizures with impairment of consciousness or awareness Generalized tonic-clonic seizures Global developmental delay Intellectual disability Multifocal epileptiform discharges Muscular hypotonia Seizures Mental retardation, autosomal dominant 42
Reversed 1
HGVS NC_000001.10:g.1735987T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210283.1, RCV000225171.2,