rs397507510, PTPN11

N. diseases: 8
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 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.810 1.000 22 2003 2017
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.800 1.000 17 2001 2017
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.700 1.000 28 2002 2016
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.700 1.000 7 2002 2014
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.700 0
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.010 1.000 1 2016 2016
Leukemogenesis
CUI: C0598766
Disease: Leukemogenesis
25 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.010 1.000 1 2016 2016