rs201247699, 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.
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.925 0.240 12 112486476 missense variant G/C snv 6.4E-05 2.1E-05 0.010 1.000 1 2011 2011
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.925 0.240 12 112486476 missense variant G/C snv 6.4E-05 2.1E-05 0.010 1.000 1 2011 2011