rs397507506, PTPN11

N. diseases: 6
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 0.807 0.240 12 112450354 missense variant C/A;G snv 0.800 1.000 2 2010 2014
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 1.000 7 2003 2015
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 1.000 5 2003 2013
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.807 0.240 12 112450354 missense variant C/A;G snv 0.700 0