rs104894097, CDKN2A

N. diseases: 8
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
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
25 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.800 1.000 12 1994 2009
melanoma
CUI: C0025202
Disease: melanoma
515 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.750 1.000 5 1995 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 1.000 19 1995 2015
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
67 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 1.000 16 1995 2015
MELANOMA-PANCREATIC CANCER SYNDROME
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
9 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 1.000 13 1998 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 0
Melanoma astrocytoma syndrome
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
2 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.700 0
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
20 0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05 0.010 1.000 1 2019 2019