rs869025191, RIT1

N. diseases: 9
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 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 1.000 5 1989 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 1.000 3 2014 2016
Abnormality of the thorax
CUI: C4021797
Disease: Abnormality of the thorax
5 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.160 1 155904739 missense variant C/A;G;T snv 0.700 0