rs727503380, 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 0.160 12 112450386 missense variant A/T snv 0.700 1.000 6 2004 2017
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.925 0.160 12 112450386 missense variant A/T snv 0.700 1.000 6 2004 2013