rs752746786, GNB1

N. diseases: 30
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
12 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 4 2015 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 5 2000 2017
Complex partial seizure with impairment of consciousness
10 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
EEG with generalized epileptiform discharges
4 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Limb hypertonia
CUI: C1838391
Disease: Limb hypertonia
12 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Multifocal epileptiform discharges
CUI: C4021219
Disease: Multifocal epileptiform discharges
9 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
Delayed speech and language development
192 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
Dystonia, Limb
CUI: C0751093
Disease: Dystonia, Limb
9 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
Infantile axial hypotonia
CUI: C3806604
Disease: Infantile axial hypotonia
8 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0