rs397507531, PTPN11

N. diseases: 18
Disease: Noonan Syndrome 1 ×
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 0.752 0.320 12 112473040 missense variant T/C;G snv 0.800 1.000 15 2001 2017