Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894109
rs104894109
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744

2014
dbSNP: rs104894109
rs104894109
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 22841127

2012
dbSNP: rs104894109
rs104894109
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894109
rs104894109
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894109
rs104894109
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment. 17492760

2007
dbSNP: rs104894109
rs104894109
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Influence of genes, nevi, and sun sensitivity on melanoma risk in a family sample unselected by family history and in melanoma-prone families. 15150307

2004
dbSNP: rs104894109
rs104894109
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Genetic susceptibility in familial melanoma from northeastern Italy. 15235029

2004
dbSNP: rs104894109
rs104894109
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543

2002
dbSNP: rs104894109
rs104894109
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223

1998
dbSNP: rs104894109
rs104894109
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		A 0.700 CausalMutation CLINVAR Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228

1998