Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. 26775776

2016
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome. 26381259

2015
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062

2009
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062

2009
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT A novel L94Q mutation in the CDKN2A gene in a melanoma kindred. 14646619

2003
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Germline mutation of ARF in a melanoma kindred. 12019208

2002
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families. 11506491

2001
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Functional reassessment of P16 variants using a transfection-based assay. 10389768

1999
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. 10874641

1999
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. Online. 10651484

1998
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228

1998
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Germline mutations of the CDKN2 gene in UK melanoma families. 9328469

1997
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906

1996
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Novel germline p16 mutation in familial malignant melanoma in southern Sweden. 8653684

1996
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780

1995
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 8595405

1995
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Germline p16 mutations in familial melanoma. 7987387

1994
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 GeneticVariation UNIPROT Germline p16 mutations in familial melanoma. 7987387

1994
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		A 0.800 SusceptibilityMutation CLINVAR