rs672601334, RIT1

N. diseases: 18
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.
NOONAN SYNDROME 8
CUI: C3809233
Disease: NOONAN SYNDROME 8
12 0.752 0.400 1 155904798 missense variant G/C snv 0.800 1.000 9 2013 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.752 0.400 1 155904798 missense variant G/C snv 0.710 1.000 7 2013 2019
Abnormality of the thorax
CUI: C4021797
Disease: Abnormality of the thorax
5 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Chylothorax
CUI: C0008733
Disease: Chylothorax
2 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Fetal ascites
CUI: C1285291
Disease: Fetal ascites
2 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
14 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.752 0.400 1 155904798 missense variant G/C snv 0.700 0
Cancer of Urinary Tract
CUI: C0751571
Disease: Cancer of Urinary Tract
11 0.752 0.400 1 155904798 missense variant G/C snv 0.010 1.000 1 2016 2016