Gene: CDKN2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372670098
rs372670098
CDKN2A
C 0.700 GeneticVariation CLINVAR Genotype analysis in Hungarian patients with multiple primary melanoma. 24660985

2014
dbSNP: rs45476696
rs45476696
CDKN2A
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts. 24737347

2014
dbSNP: rs587782792
rs587782792
CDKN2A
G 0.700 GeneticVariation CLINVAR Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom. 25780468

2014
dbSNP: rs730881673
rs730881673
CDKN2A
GT 0.700 CausalMutation CLINVAR Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling. 25064638

2014
dbSNP: rs730881675
rs730881675
CDKN2A
G 0.700 CausalMutation CLINVAR Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom. 25780468

2014
dbSNP: rs768966657
rs768966657
CDKN2A
AGAC 0.700 CausalMutation CLINVAR High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families. 24935963

2014
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013
dbSNP: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013
dbSNP: rs587778189
rs587778189
CDKN2A
G 0.700 GeneticVariation CLINVAR The missing puzzle piece: splicing mutations. 24294354

2013
dbSNP: rs730881674
rs730881674
CDKN2A
C 0.700 CausalMutation CLINVAR Surveillance of second-degree relatives from melanoma families with a CDKN2A germline mutation. 23897584

2013
dbSNP: rs730881675
rs730881675
CDKN2A
G 0.700 CausalMutation CLINVAR Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome. 23613284

2013
dbSNP: rs1554654224
rs1554654224
CDKN2A
C 0.700 GeneticVariation 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: rs587782792
rs587782792
CDKN2A
G 0.700 GeneticVariation 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: rs730881674
rs730881674
CDKN2A
C 0.700 CausalMutation CLINVAR Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas. 22636603

2012
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: rs104894098
rs104894098
CDKN2A
T 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 GeneticVariation CLINVAR Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. 21893440

2011
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs1060501260
rs1060501260
CDKN2A
A 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs121913381
rs121913381
CDKN2A
A 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs121913386
rs121913386
CDKN2A
A 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs137854599
rs137854599
CDKN2A
T 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs199907548
rs199907548
CDKN2A
G 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs34968276
rs34968276
CDKN2A
T 0.700 GeneticVariation CLINVAR Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma. 21893440

2011