rs869025195, RIT1

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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.790 0.280 1 155904493 missense variant T/G snv 0.700 1.000 10 2010 2016
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.790 0.280 1 155904493 missense variant T/G snv 0.700 1.000 10 2010 2016
Abnormality of refraction
CUI: C4025843
Disease: Abnormality of refraction
31 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
Hyperkeratosis pilaris
CUI: C4073145
Disease: Hyperkeratosis pilaris
3 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
Increased tendency to bruise
CUI: C0423798
Disease: Increased tendency to bruise
14 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.790 0.280 1 155904493 missense variant T/G snv 0.700 0