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.
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
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