rs397507543, 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 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.925 0.160 12 112489078 missense variant G/A snv 0.700 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.925 0.160 12 112489078 missense variant G/A snv 0.700 1.000 5 2002 2010