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: 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: 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: rs760065045
rs760065045
CDKN2A
1.000 0.080 9 21974770 missense variant C/A;G snv 4.3E-06
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		0.700 0
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: 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: 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: 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: 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: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0
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: rs6413463
rs6413463
CDKN2A
1.000 0.040 9 21970990 missense variant A/G;T snv 2.9E-05; 3.0E-04
CUI: C0023418
Disease: leukemia
leukemia 		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
dbSNP: rs199907548
rs199907548
CDKN2A
0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		0.700 0