Gene: CDKN2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred. 15304098

2004
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 8595405

1995
dbSNP: rs104894095
rs104894095
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: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 8570179

1995
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein. 9389568

1997
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR Genetic discrimination and health insurance: an urgent need for reform. 7569991

1995
dbSNP: rs104894095
rs104894095
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: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR Germline mutations of the CDKN2 gene in UK melanoma families. 9328469

1997
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682

2007
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A mutations in multiple primary melanomas. 9516223

1998
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 9699728

1998
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. 17171691

2007
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR Prevalence of germ-line mutations in p16, p19ARF, and CDK4 in familial melanoma: analysis of a clinic-based population. 8710906

1996
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families. 16307646

2005
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors. 10491434

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 Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 8570179

1995
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 Longitudinal assessment of the nevus phenotype in a melanoma kindred. 15304099

2004
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 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 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 Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011