CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Hereditary Melanoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913387
rs121913387
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Germline p16 mutations in familial melanoma. 7987387 1994
dbSNP: rs121913387
rs121913387
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202 1996
dbSNP: rs121913387
rs121913387
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma. 18983535 2008
dbSNP: rs1287464120
rs1287464120
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. 11571653 2001
dbSNP: rs1287464120
rs1287464120
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A mutation hotspot at the p14ARF splice site. 15856016 2005
dbSNP: rs1287464120
rs1287464120
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. 17440112 2007
dbSNP: rs1554654052
rs1554654052
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554656411
rs1554656411
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway. 27804060 2017
dbSNP: rs1554656411
rs1554656411
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas. 18023021 2008
dbSNP: rs1554656411
rs1554656411
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471 2004
dbSNP: rs1554656411
rs1554656411
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma. 16893909 2006
dbSNP: rs1554656411
rs1554656411
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682 2007
dbSNP: rs1554656411
rs1554656411
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. 17047042 2006
dbSNP: rs1563902931
rs1563902931
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. 17440112 2007
dbSNP: rs1563902931
rs1563902931
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. 11571653 2001
dbSNP: rs1563902931
rs1563902931
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A mutation hotspot at the p14ARF splice site. 15856016 2005
dbSNP: rs1800586
rs1800586
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Multiple primary melanomas in a CDKN2A mutation carrier exposed to ionizing radiation. 18025365 2007
dbSNP: rs1800586
rs1800586
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Increased melanocytic nevi and nevus density in a G-34T CDKN2A/p16 melanoma-prone pedigree. 18337833 2008
dbSNP: rs1800586
rs1800586
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Mutation screening of the CDKN2A promoter in melanoma families. 10738302 2000
dbSNP: rs1800586
rs1800586
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Population-based prevalence of CDKN2A mutations in Utah melanoma families. 16397522 2006
dbSNP: rs1800586
rs1800586
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR CDKN2A mutations in melanoma families from Uruguay. 19523171 2009
dbSNP: rs1800586
rs1800586
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma. 20093296 2010
dbSNP: rs1800586
rs1800586
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma. 9916806 1999
dbSNP: rs1800586
rs1800586
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil. 17713569 2008
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883 2011