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: 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: 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: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.010 < 0.001 1 2002 2002
dbSNP: rs45456595
rs45456595
CDKN2A
9 21974641 missense variant C/G snv 2.0E-03 2.1E-03
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2014 2014
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: rs199907548
rs199907548
CDKN2A
0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 1.000 1 2012 2012
dbSNP: rs199907548
rs199907548
CDKN2A
0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		0.010 1.000 1 2012 2012
dbSNP: rs372266620
rs372266620
CDKN2A
0.925 0.120 9 21971189 missense variant G/A;C;T snv 9.1E-05; 2.3E-05; 9.1E-06
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		0.010 1.000 1 2003 2003
dbSNP: rs200863613
rs200863613
CDKN2A
0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 1.000 1 2017 2017
dbSNP: rs200863613
rs200863613
CDKN2A
0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2017 2017
dbSNP: rs200863613
rs200863613
CDKN2A
0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs200863613
rs200863613
CDKN2A
0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs200863613
rs200863613
CDKN2A
0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs200863613
rs200863613
CDKN2A
0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2017 2017
dbSNP: rs550846229
rs550846229
CDKN2A
1.000 0.040 9 21974658 missense variant G/A;C snv 5.2E-05
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		0.010 1.000 1 2003 2003
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: rs104894097
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C0206754
Disease: Neuroendocrine Tumors
Neuroendocrine Tumors 		0.010 1.000 1 2019 2019
dbSNP: rs770859592
rs770859592
CDKN2A
1.000 0.080 9 21974599 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		0.010 1.000 1 2015 2015
dbSNP: rs759763964
rs759763964
CDKN2A
0.925 0.120 9 21971142 missense variant C/G;T snv 1.4E-05
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 1999 2013
dbSNP: rs759763964
rs759763964
CDKN2A
0.925 0.120 9 21971142 missense variant C/G;T snv 1.4E-05
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs1277299943
rs1277299943
CDKN2A
9 21974817 missense variant G/C snv 1.3E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2001 2001
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: 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: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0030354
Disease: Papilloma
Papilloma 		0.010 1.000 1 2002 2002
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		0.010 1.000 1 2001 2001