rs121918455, PTPN11

N. diseases: 31
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.
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Short nose
CUI: C1854114
Disease: Short nose
23 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Supravalvular aortic stenosis
CUI: C0003499
Disease: Supravalvular aortic stenosis
38 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.695 0.440 12 112477720 missense variant A/C;G snv 0.710 1.000 9 2002 2017
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.695 0.440 12 112477720 missense variant A/C;G snv 0.800 1.000 17 2001 2017