rs137854539, GNAS

N. diseases: 28
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.
Pseudohypoparathyroidism, Type Ia
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
20 0.716 0.520 20 58903703 missense variant C/T snv 0.800 1.000 10 1993 2005
Amblyopia
CUI: C0002418
Disease: Amblyopia
29 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Asthma
CUI: C0004096
Disease: Asthma
1536 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Borderline intellectual disability
CUI: C0006009
Disease: Borderline intellectual disability
3 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Breech Presentation
CUI: C0006157
Disease: Breech Presentation
11 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Elevated circulating parathyroid hormone level
CUI: C0857973
Disease: Elevated circulating parathyroid hormone level
1 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Hyperparathyroidism
CUI: C0020502
Disease: Hyperparathyroidism
14 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Hypocalcemia
CUI: C0020598
Disease: Hypocalcemia
13 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Hypophosphatemia
CUI: C0085682
Disease: Hypophosphatemia
5 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Metopic synostosis
CUI: C1860819
Disease: Metopic synostosis
5 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Pre-Eclampsia
CUI: C0032914
Disease: Pre-Eclampsia
14 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Premature birth following premature rupture of fetal membranes
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
4 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Pseudopseudohypoparathyroidism
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
11 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Reduced fetal movement
CUI: C0235659
Disease: Reduced fetal movement
17 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Sagittal craniosynostosis
CUI: C0432123
Disease: Sagittal craniosynostosis
13 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.716 0.520 20 58903703 missense variant C/T snv 0.700 0