rs121918454, PTPN11

N. diseases: 17
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.
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 0
Broad neck
CUI: C1853638
Disease: Broad neck
10 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 0
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.800 1.000 17 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.710 1.000 8 2001 2014
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 1.000 11 2003 2016
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.800 1.000 3 2003 2016
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
291 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
NEUROBLASTOMA, SUSCEPTIBILITY TO
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
34 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016