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: C0025202
Disease: melanoma
melanoma 		0.800 1.000 10 1999 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: 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: C0025202
Disease: melanoma
melanoma 		0.060 1.000 6 1997 2007
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: 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: 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: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.710 1.000 1 1995 2013
dbSNP: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2003 2010
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: rs1064794292
rs1064794292
CDKN2A
0.882 0.200 9 21974760 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 1 2009 2009
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