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rs869312823

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312823(A;G)
Make rs869312823(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position1806509
GeneGNB1
is asnp
is mentioned by
dbSNPrs869312823
ebirs869312823
HLIrs869312823
Exacrs869312823
Varsomers869312823
Maprs869312823
PheGenIrs869312823
hapmaprs869312823
1000 genomesrs869312823
hgdprs869312823
ensemblrs869312823
gopubmedrs869312823
geneviewrs869312823
scholarrs869312823
googlers869312823
pharmgkbrs869312823
gwascentralrs869312823
openSNPrs869312823
23andMers869312823
23andMe allrs869312823
SNP Nexus

SNPshotrs869312823
SNPdbers869312823
MSV3drs869312823
GWAS Ctlgrs869312823
Max Magnitude0
ClinVar
Risk rs869312823(G;G)
Alt rs869312823(G;G)
Reference rs869312823(A;A)
Significance Pathogenic
Disease EEG with generalized epileptiform discharges Feeding difficulties Global developmental delay Growth delay Infantile muscular hypotonia Muscular hypotonia Seizures Strabismus Mental retardation
Variation info
Gene GNB1
CLNDBN EEG with generalized epileptiform discharges Feeding difficulties Global developmental delay Growth delay Infantile muscular hypotonia Muscular hypotonia Seizures Strabismus Mental retardation, autosomal dominant 42
Reversed 1
HGVS NC_000001.10:g.1737948T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000210269.1, RCV000225134.2,