rs121918464, PTPN11

N. diseases: 25
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.
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.708 0.440 12 112450406 missense variant G/A;C snv 0.870 1.000 10 2003 2019
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 1.000 1 2016 2016
NEUROBLASTOMA, SUSCEPTIBILITY TO
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
34 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
283 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 1.000 1 2016 2016
Noonan Syndrome 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 0.708 0.440 12 112450406 missense variant G/A;C snv 0.700 0
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.708 0.440 12 112450406 missense variant G/A;C snv 0.030 1.000 3 2014 2018
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
50 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2011 2011
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
168 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2014 2014
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2014 2014
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2017 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1 2018 2018
Epithelioid hemangioendothelioma
CUI: C0206732
Disease: Epithelioid hemangioendothelioma
4 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2018 2018
Glioblastoma
CUI: C0017636
Disease: Glioblastoma
281 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2019 2019
Glioblastoma Multiforme
CUI: C1621958
Disease: Glioblastoma Multiforme
186 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2019 2019
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2007 2007
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2018 2018
leukemia
CUI: C0023418
Disease: leukemia
144 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2013 2013
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2011 2011
Malignant transformation
CUI: C1608408
Disease: Malignant transformation
20 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2011 2011
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2006 2006
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1 2019 2019
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2007 2007
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
72 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1 2018 2018