Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11547328
rs11547328
CDK4
A 0.800 CausalMutation CLINVAR Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants. 23384855

2013
dbSNP: rs11547328
rs11547328
CDK4
A 0.800 CausalMutation CLINVAR MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients. 22804906

2012
dbSNP: rs104894340
rs104894340
CDK4
0.800 GeneticVariation UNIPROT Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228

1998
dbSNP: rs104894340
rs104894340
CDK4
0.800 GeneticVariation UNIPROT Complete scanning of the CDK4 gene by denaturing gradient gel electrophoresis: a novel missense mutation but low overall frequency of mutations in sporadic metastatic malignant melanoma. 9311594

1997
dbSNP: rs11547328
rs11547328
CDK4
A 0.800 CausalMutation CLINVAR Identification of CDK4 sequences involved in cyclin D1 and p16 binding. 9228064

1997
dbSNP: rs104894340
rs104894340
CDK4
0.800 GeneticVariation UNIPROT Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 8528263

1996
dbSNP: rs11547328
rs11547328
CDK4
A 0.800 CausalMutation CLINVAR Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 8528263

1996
dbSNP: rs104894340
rs104894340
CDK4
0.800 GeneticVariation UNIPROT A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 7652577

1995
dbSNP: rs11547328
rs11547328
CDK4
A 0.800 CausalMutation CLINVAR A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 7652577

1995
dbSNP: rs104894340
rs104894340
CDK4
T 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs11547328
rs11547328
CDK4
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs11547328
rs11547328
CDK4
0.800 GeneticVariation UNIPROT

dbSNP: rs144890720
rs144890720
CDK4
0.700 GeneticVariation UNIPROT Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228

1998
dbSNP: rs144890720
rs144890720
CDK4
0.700 GeneticVariation UNIPROT Complete scanning of the CDK4 gene by denaturing gradient gel electrophoresis: a novel missense mutation but low overall frequency of mutations in sporadic metastatic malignant melanoma. 9311594

1997
dbSNP: rs144890720
rs144890720
CDK4
0.700 GeneticVariation UNIPROT Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. 8528263

1996
dbSNP: rs144890720
rs144890720
CDK4
0.700 GeneticVariation UNIPROT A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. 7652577

1995