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: 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: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		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: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2011 2011
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
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		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: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 1.000 1 2003 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		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: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2003 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: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms 		0.010 1.000 1 2003 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: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002