rs397507510, PTPN11

N. diseases: 5
Source: CLINVAR ×
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
53 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.810 1.000 19 2003 2017
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
73 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.800 1.000 0 2001 2017
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
32 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
153 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
22 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.700 0