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rs869312824

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312824(C;C)
Make rs869312824(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position1804565
GeneGNB1
is asnp
is mentioned by
dbSNPrs869312824
ebirs869312824
HLIrs869312824
Exacrs869312824
Varsomers869312824
Maprs869312824
PheGenIrs869312824
hapmaprs869312824
1000 genomesrs869312824
hgdprs869312824
ensemblrs869312824
gopubmedrs869312824
geneviewrs869312824
scholarrs869312824
googlers869312824
pharmgkbrs869312824
gwascentralrs869312824
openSNPrs869312824
23andMers869312824
23andMe allrs869312824
SNP Nexus

SNPshotrs869312824
SNPdbers869312824
MSV3drs869312824
GWAS Ctlgrs869312824
Max Magnitude0
ClinVar
Risk rs869312824(C;C)
Alt rs869312824(C;C)
Reference rs869312824(T;T)
Significance Pathogenic
Disease Cortical visual impairment Expressive language delay Failure to thrive Feeding difficulties Global developmental delay Growth delay Inability to walk Intellectual disability Limb hypertonia Multifocal epileptiform discharges Muscular hypotonia Nystagmus Seizures Strabismus
Variation info
Gene GNB1
CLNDBN Cortical visual impairment Expressive language delay Failure to thrive Feeding difficulties Global developmental delay Growth delay Inability to walk Intellectual disability Limb hypertonia Multifocal epileptiform discharges Muscular hypotonia Nystagmus Seizures Strabismus
Reversed 1
HGVS NC_000001.10:g.1736004A>G
CLNSRC
CLNACC RCV000210270.1,