Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature? 26650572

2016

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062

2009

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Population-based prevalence of CDKN2A and CDK4 mutations in patients with multiple primary melanomas. 18023021

2008

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Role of the CDKN2A locus in patients with multiple primary melanomas. 15860862

2005

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Familial head and neck cancer: molecular analysis of a new clinical entity. 12352668

2002

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia. 10874641

1999

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Cancer-associated mis-sense and deletion mutations impair p16INK4 CDK inhibitory activity. 8603820

1996

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780

1995

dbSNP: rs749714198
rs749714198
A 0.700 GeneticVariation CLINVAR Germline p16 mutations in familial melanoma. 7987387

1994