rs1057517917, PTPN11

N. diseases: 2
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
CUI: C0028326
Disease: Noonan Syndrome
187 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.020 0.500 2 2006 2012
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.010 1 2006 2006