Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR Germline CDKN2A Mutation Status and Survival in Familial Melanoma Cases. 27287845

2016
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR Germline mutations predisposing to non-small cell lung cancer. 25813228

2015
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families. 24935963

2014
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR Swedish CDKN2A mutation carriers do not present the atypical mole syndrome phenotype. 20526219

2010
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682

2007
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. 17047042

2006
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471

2004
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543

2002
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families. 11319798

2001
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families. 10922411

2000
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas. 11156381

2000
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information. 10498896

1999
dbSNP: rs768966657
rs768966657
CDKN2A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAC 0.700 CausalMutation CLINVAR Novel germline p16 mutation in familial malignant melanoma in southern Sweden. 8653684

1996