rs1800586, CDKN2A

N. diseases: 5
Disease: Hereditary Melanoma ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma. 20093296 2010
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR CDKN2A mutations in melanoma families from Uruguay. 19523171 2009
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil. 17713569 2008
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Increased melanocytic nevi and nevus density in a G-34T CDKN2A/p16 melanoma-prone pedigree. 18337833 2008
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. 18025365 2007
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Population-based prevalence of CDKN2A mutations in Utah melanoma families. 16397522 2006
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Mutation screening of the CDKN2A promoter in melanoma families. 10738302 2000
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
0.700 CausalMutation CLINVAR Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma. 9916806 1999