rs121918460, PTPN11

N. diseases: 27
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 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.710 1.000 8 2002 2012
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.800 1.000 17 2001 2017