Gene: CDKN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034265990
rs1034265990
CDKN2A
0.010 GeneticVariation BEFREE Association of the POT1 Germline Missense Variant p.I78T With Familial Melanoma. 30586141

2019
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma. 21801156

2011
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR INK4/ARF germline alterations in pancreatic cancer patients. 14679123

2004
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. 11807902

2002
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471

2004
dbSNP: rs104894095
rs104894095
CDKN2A
T 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 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
T 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 BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972

2015
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