rs3731249, CDKN2A

N. diseases: 23
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.
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
21 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.700 1.000 1 2018 2018
melanoma
CUI: C0025202
Disease: melanoma
515 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.060 0.667 6 2002 2011
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.030 1.000 3 2015 2018
Childhood Acute Lymphoblastic Leukemia
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
261 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.030 1.000 3 2015 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.030 0.667 3 2005 2007
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.030 1.000 3 1998 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.030 0.667 3 2005 2007
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.020 1.000 2 2007 2009
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.020 1.000 2 2007 2009
Adenocarcinoma Of Esophagus
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
81 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2012 2012
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
154 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2018 2018
Adult Meningioma
CUI: C0278877
Disease: Adult Meningioma
30 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2019 2019
Benign melanocytic nevus
CUI: C1456781
Disease: Benign melanocytic nevus
20 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1 2002 2002
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2006 2006
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2011 2011
Dysplastic Nevus
CUI: C0205748
Disease: Dysplastic Nevus
7 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2002 2002
Intestinal metaplasia
CUI: C0334037
Disease: Intestinal metaplasia
24 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2012 2012
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2006 2006
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1 2002 2002
Meningioma
CUI: C0025286
Disease: Meningioma
43 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2019 2019
Meningioma, benign, no ICD-O subtype
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
30 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2019 2019
Nevus
CUI: C0027960
Disease: Nevus
43 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1 2002 2002
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2006 2006