rs104894094, CDKN2A

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
25 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.800 1.000 12 1994 2009
MELANOMA-PANCREATIC CANCER SYNDROME
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
9 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.800 1.000 11 1994 2016
melanoma
CUI: C0025202
Disease: melanoma
515 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.800 1.000 10 1999 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.700 1.000 8 2000 2011
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
67 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.700 1.000 7 2000 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.700 0
Dysplastic Nevus
CUI: C0205748
Disease: Dysplastic Nevus
7 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.010 1.000 1 2013 2013
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.010 1.000 1 2004 2004
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.010 1.000 1 2014 2014
Mesothelioma
CUI: C0025500
Disease: Mesothelioma
4 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.010 1.000 1 2016 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.010 1.000 1 2004 2004
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.010 1.000 1 2004 2004