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: rs1034265990
rs1034265990
CDKN2A
0.925 0.120 9 21971123 missense variant G/A;T snv 4.4E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs1034265990
rs1034265990
CDKN2A
0.925 0.120 9 21971123 missense variant G/A;T snv 4.4E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2019 2019
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus 		0.010 1.000 1 2013 2013
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2004 2004
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		0.010 1.000 1 2016 2016
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2004 2004
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 1.000 1 2014 2014
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2004 2004
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.010 1.000 1 2002 2002
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: rs104894104
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs104894104
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0017638
Disease: Glioma
Glioma 		0.010 1.000 1 1997 1997
dbSNP: rs104894104
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2007 2007
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1060504185
rs1060504185
CDKN2A
9 21971116 missense variant G/A;C snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2011 2011
dbSNP: rs1131691186
rs1131691186
CDKN2A
0.925 0.120 9 21974761 missense variant C/A;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.010 1.000 1 2007 2007
dbSNP: rs1131691186
rs1131691186
CDKN2A
0.925 0.120 9 21974761 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2007 2007
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2017 2017
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: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2017 2017
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: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2011 2011