rs1800586, CDKN2A

N. diseases: 5
Disease: MELANOMA-PANCREATIC CANCER SYNDROME ×
Source: CLINVAR ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MELANOMA-PANCREATIC CANCER SYNDROME
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
0.700 CausalMutation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309 2016
MELANOMA-PANCREATIC CANCER SYNDROME
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
0.700 CausalMutation CLINVAR Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma. 20093296 2010
MELANOMA-PANCREATIC CANCER SYNDROME
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
0.700 CausalMutation CLINVAR Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma. 9916806 1999