rs121918453, PTPN11

N. diseases: 15
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 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 5 2003 2016
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
73 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.800 1.000 0 2001 2017
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
153 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.710 1.000 18 2002 2009
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
118 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
51 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
141 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 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
32 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 1.000 1 2009 2009
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
8 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
22 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