rs397507511, PTPN11

N. diseases: 3
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.
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.882 0.240 12 112450385 missense variant G/A;C snv 0.800 1.000 2 2003 2016
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.882 0.240 12 112450385 missense variant G/A;C snv 0.700 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.882 0.240 12 112450385 missense variant G/A;C snv 0.700 1.000 4 2003 2013