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rs752746786

From SNPedia

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Geno Mag Summary
(A;A) 0 common in clinvar
Make rs752746786(A;G)
Make rs752746786(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position1806503
GeneGNB1
is asnp
is mentioned by
dbSNPrs752746786
ebirs752746786
HLIrs752746786
Exacrs752746786
Varsomers752746786
Maprs752746786
PheGenIrs752746786
hapmaprs752746786
1000 genomesrs752746786
hgdprs752746786
ensemblrs752746786
gopubmedrs752746786
geneviewrs752746786
scholarrs752746786
googlers752746786
pharmgkbrs752746786
gwascentralrs752746786
openSNPrs752746786
23andMers752746786
23andMe allrs752746786
SNP Nexus

SNPshotrs752746786
SNPdbers752746786
MSV3drs752746786
GWAS Ctlgrs752746786
Max Magnitude0
ClinVar
Risk rs752746786(G;G)
Alt rs752746786(G;G)
Reference rs752746786(A;A)
Significance Pathogenic
Disease Inborn genetic diseases Cleft palate Dystonia Growth delay Hypothyroidism Infantile axial hypotonia Intellectual disability Upper limb hypertonia Developmental regression EEG with generalized epileptiform discharges Expressive language delay Failure to thrive Global developmental delay Inability to walk Limb hypertonia Multifocal epileptiform discharges Muscular hypotonia Nystagmus Seizures Strabismus Mental retardation Myelodysplastic syndrome Cortical visual impairment Feeding difficulties Focal seizures with impairment of consciousness or awareness Infantile muscular hypotonia Acute lymphoid leukemia
Variation info
Gene GNB1
CLNDBN Inborn genetic diseases Cleft palate Dystonia Growth delay Hypothyroidism Infantile axial hypotonia Intellectual disability Upper limb hypertonia Developmental regression EEG with generalized epileptiform discharges Expressive language delay Failure to thrive Global developmental delay Inability to walk Limb hypertonia Multifocal epileptiform discharges Muscular hypotonia Nystagmus Seizures Strabismus Mental retardation, autosomal dominant 42 Myelodysplastic syndrome Cortical visual impairment Feeding difficulties Focal seizures with impairment of consciousness or awareness Infantile muscular hypotonia Acute lymphoid leukemia
Reversed 0
HGVS NC_000001.10:g.1737942A>G; NC_000001.10:g.1737942A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000190738.1, RCV000208571.1, RCV000210259.1, RCV000225179.2, RCV000225295.2, RCV000210280.1, RCV000225195.2, RCV000225283.2,