rs869312826, GNB1

N. diseases: 6
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
12 0.882 0.080 1 1787378 missense variant C/T snv 0.700 1.000 4 2015 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.882 0.080 1 1787378 missense variant C/T snv 0.700 1.000 1 2016 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.080 1 1787378 missense variant C/T snv 0.700 1.000 1 2016 2016
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.080 1 1787378 missense variant C/T snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
417 0.882 0.080 1 1787378 missense variant C/T snv 0.700 1.000 1 2016 2016
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
21 0.882 0.080 1 1787378 missense variant C/T snv 0.700 1.000 1 2016 2016