Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.700 1.000 1 2018 2018
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.060 0.667 6 2002 2011
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 0.667 3 2005 2007
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.030 1.000 3 2015 2018
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 1998 2019
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 1.000 3 2015 2018
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2005 2007
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2007 2009
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2007 2009
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 1.000 1 2012 2012
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0027960
Disease: Nevus
Nevus 		0.010 < 0.001 1 2002 2002
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2006 2006
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0025286
Disease: Meningioma
Meningioma 		0.010 1.000 1 2019 2019
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.010 < 0.001 1 2002 2002
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.010 1.000 1 2019 2019
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		0.010 1.000 1 2019 2019
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.010 < 0.001 1 2002 2002
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus 		0.010 1.000 1 2002 2002
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		0.010 1.000 1 2012 2012
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2006 2006
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2006 2006