rs104894095, CDKN2A

N. diseases: 6
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 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.800 1.000 12 1994 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.700 1.000 16 1995 2010
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
67 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.700 1.000 12 1995 2015
melanoma
CUI: C0025202
Disease: melanoma
515 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.060 1.000 6 1997 2007
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
33 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.010 1.000 1 2002 2002
Metastatic melanoma
CUI: C0278883
Disease: Metastatic melanoma
42 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.010 1.000 1 2002 2002