rs869312824, GNB1

N. diseases: 14
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 0.200 1 1804565 missense variant A/G snv 0.700 1.000 4 2015 2017
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Limb hypertonia
CUI: C1838391
Disease: Limb hypertonia
12 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Multifocal epileptiform discharges
CUI: C4021219
Disease: Multifocal epileptiform discharges
9 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.827 0.200 1 1804565 missense variant A/G 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 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016