rs869312822, GNB1

N. diseases: 8
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.
Complex partial seizure with impairment of consciousness
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
10 0.827 0.200 1 1806514 missense variant A/C snv 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.200 1 1806514 missense variant A/C snv 0.700 1.000 1 2016 2016
Limb hypertonia
CUI: C1838391
Disease: Limb hypertonia
12 0.827 0.200 1 1806514 missense variant A/C snv 0.700 1.000 1 2016 2016
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.827 0.200 1 1806514 missense variant A/C snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.200 1 1806514 missense variant A/C snv 0.700 1.000 1 2016 2016
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.827 0.200 1 1806514 missense variant A/C snv 0.700 1.000 1 2016 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
12 0.827 0.200 1 1806514 missense variant A/C snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.200 1 1806514 missense variant A/C snv 0.700 0