rs869312823, GNB1

N. diseases: 9
Source: ALL
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 1806509 missense variant T/C snv 0.800 0
EEG with generalized epileptiform discharges
CUI: C4023476
Disease: EEG with generalized epileptiform discharges
4 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016