Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Novel CDKN2A mutations in Austrian melanoma patients. 26225579

2015
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156

2011
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy. 19799798

2009
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6. 17909018

2007
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. 16234564

2005
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Longitudinal assessment of the nevus phenotype in a melanoma kindred. 15304099

2004
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471

2004
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. 11815963

2002
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding. 11595726

2001
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation. 11556834

2001
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Mutation testing in melanoma families: INK4A, CDK4 and INK4D. 10390011

1999
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas. 10398427

1999
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 9699728

1998
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223

1998
dbSNP: rs104894097
rs104894097
CDKN2A
G 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
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 8570179

1995
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 GeneticVariation CLINVAR