Source: BEFREE

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: rs11515
rs11515
CDKN2A ; CDKN2A-DT
0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 < 0.001 1 2014 2014
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 < 0.001 1 2014 2014
dbSNP: rs1289280947
rs1289280947
CDKN2A
0.851 0.080 9 21974571 missense variant C/T snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 < 0.001 1 2009 2009
dbSNP: rs1289280947
rs1289280947
CDKN2A
0.851 0.080 9 21974571 missense variant C/T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2009 2009
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2017 2017
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2017 2017
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: 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: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.010 < 0.001 1 2002 2002
dbSNP: rs6413464
rs6413464
CDKN2A
1.000 0.040 9 21970980 missense variant C/A;G snv 1.3E-03; 4.1E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 < 0.001 1 2018 2018
dbSNP: rs1416122398
rs1416122398
CDKN2A
1.000 0.080 9 21974791 missense variant C/A;G snv 4.3E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 0.500 2 2008 2013
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 0.500 2 2002 2003
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 0.667 3 2005 2007
dbSNP: rs786204195
rs786204195
CDKN2A
0.851 0.200 9 21974686 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.030 0.667 3 2006 2008
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 0.889 9 2006 2018
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.800 1.000 10 1999 2016
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.070 1.000 7 1997 2015
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.060 1.000 6 1997 2007
dbSNP: rs104894097
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.750 1.000 5 1995 2015
dbSNP: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.050 1.000 5 1999 2015
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.050 1.000 5 2012 2018
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.050 1.000 5 2010 2018
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.030 1.000 3 2007 2016