Source: UNIPROT

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: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs104894097
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs137854597
rs137854597
CDKN2A
1.000 9 21971094 missense variant C/T snv 4.3E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs137854599
rs137854599
CDKN2A
0.882 0.080 9 21971093 missense variant C/G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs878853647
rs878853647
CDKN2A
0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.800 1.000 1 1994 2016
dbSNP: rs113798404
rs113798404
CDKN2A
0.925 0.080 9 21970995 missense variant C/G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 0
dbSNP: rs1064794292
rs1064794292
CDKN2A
0.882 0.200 9 21974760 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.710 1.000 0 2009 2009
dbSNP: rs11552822
rs11552822
CDKN2A
1.000 9 21971109 missense variant C/A;T snv 4.3E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs1554653960
rs1554653960
CDKN2A
0.925 0.040 9 21971007 missense variant C/T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs587778189
rs587778189
CDKN2A
1.000 9 21974679 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs746834149
rs746834149
CDKN2A
1.000 9 21974724 missense variant C/A;G;T snv 4.1E-06; 1.2E-05
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs749714198
rs749714198
CDKN2A
0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs758389471
rs758389471
CDKN2A
0.882 0.080 9 21971160 missense variant C/G;T snv 4.7E-06; 4.7E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs760640852
rs760640852
CDKN2A
1.000 9 21971139 missense variant C/A;G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs876658534
rs876658534
CDKN2A
0.925 0.120 9 21971156 missense variant GC/AA mnv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs878853650
rs878853650
CDKN2A
0.925 0.120 9 21974733 missense variant A/G snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs1057519883
rs1057519883
CDKN2A
0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1064794292
rs1064794292
CDKN2A
0.882 0.200 9 21974760 missense variant C/T snv
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.700 0
dbSNP: rs113798404
rs113798404
CDKN2A
0.925 0.080 9 21970995 missense variant C/G;T snv
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		0.700 0
dbSNP: rs11552822
rs11552822
CDKN2A
1.000 9 21971109 missense variant C/A;T snv 4.3E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.700 0
dbSNP: rs116150891
rs116150891
CDKN2A
1.000 0.040 9 21970929 missense variant G/A;C snv 5.6E-04 2.6E-03
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 0