Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup. 26775776

2016
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Germline CDKN2A mutations in childhood melanoma: a case of melanoma-pancreatic cancer syndrome. 26381259

2015
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062

2009
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Functional reassessment of P16 variants using a transfection-based assay. 10389768

1999
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780

1995
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.800 CausalMutation CLINVAR Germline p16 mutations in familial melanoma. 7987387

1994
dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104894094
rs104894094
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs104894095
rs104894095
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		G 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs104894097
rs104894097
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104894097
rs104894097
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		G 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs104894098
rs104894098
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		T 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs104894099
rs104894099
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		C 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs113798404
rs113798404
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		G 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs137854597
rs137854597
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		T 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs137854599
rs137854599
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		T 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs878853647
rs878853647
CDKN2A
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104894097
rs104894097
CDKN2A
CUI: C0025202
Disease: melanoma
melanoma 		G 0.750 CausalMutation CLINVAR

dbSNP: rs104894098
rs104894098
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892

2013
dbSNP: rs104894098
rs104894098
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs104894098
rs104894098
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding. 11595726

2001