rs869312825, GNB1

N. diseases: 11
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 0.827 0.120 1 1804548 start lost T/C snv 0.800 1.000 4 2015 2017
Complex partial seizure with impairment of consciousness
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
10 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
EEG with generalized epileptiform discharges
CUI: C4023476
Disease: EEG with generalized epileptiform discharges
4 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
Multifocal epileptiform discharges
CUI: C4021219
Disease: Multifocal epileptiform discharges
9 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016