Gene: CDKN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
T 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 Germline mutations of the CDKN2 gene in UK melanoma families. 9328469

1997
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 Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682

2007
dbSNP: rs104894095
rs104894095
CDKN2A
T 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
T 0.700 CausalMutation CLINVAR Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. 16234564

2005
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 CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein. 9389568

1997
dbSNP: rs104894095
rs104894095
CDKN2A
T 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
T 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 Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 8595405

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

1997
dbSNP: rs104894095
rs104894095
CDKN2A
T 0.700 CausalMutation CLINVAR The prevalence of CDKN2A germ-line mutations and relative risk for cutaneous malignant melanoma: an international population-based study. 16896043

2006
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744

2014
dbSNP: rs104894095
rs104894095
CDKN2A
T 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 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 Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883

2011
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 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL. 17047042

2006
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 Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma. 18363633

2008
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired. 15945100

2005