rs121918453, PTPN11

N. diseases: 19
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 coagulation
CUI: C1846821
Disease: Abnormality of coagulation
15 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 0
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 0
Broad neck
CUI: C1853638
Disease: Broad neck
10 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 0
Cardiovascular Abnormalities
CUI: C0243050
Disease: Cardiovascular Abnormalities
12 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 0
Leopard Syndrome 1
CUI: C4551484
Disease: Leopard Syndrome 1
26 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 0
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 0
Adult Rhabdomyosarcoma
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
12 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.010 1.000 1 2006 2006
Childhood Rhabdomyosarcoma
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
12 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.010 1.000 1 2006 2006
Rhabdomyosarcoma
CUI: C0035412
Disease: Rhabdomyosarcoma
20 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.010 1.000 1 2006 2006
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.010 1.000 1 2007 2007
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.710 1.000 18 2002 2009
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 1.000 1 2009 2009
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 7 2003 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
291 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
NEUROBLASTOMA, SUSCEPTIBILITY TO
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
34 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 17 2001 2017