CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Hereditary Melanoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779306249
rs779306249
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C1512419
Disease:
Hereditary Melanoma 		TC 0.700 CausalMutation CLINVAR A mutation hotspot at the p14ARF splice site. 15856016 2005
dbSNP: rs779306249
rs779306249
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C1512419
Disease:
Hereditary Melanoma 		TC 0.700 CausalMutation CLINVAR A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. 11571653 2001
dbSNP: rs779306249
rs779306249
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C1512419
Disease:
Hereditary Melanoma 		TC 0.700 CausalMutation CLINVAR Characterization of a germ-line deletion, including the entire INK4/ARF locus, in a melanoma-neural system tumor family: identification of ANRIL, an antisense noncoding RNA whose expression coclusters with ARF. 17440112 2007
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
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
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR The remaining two mutations, a G-to-W mutation at position 101 (Gl01W) and V126D, both of which are associated with familial melanoma, were found to be temperature sensitive for binding to Cdk4 and Cdk6 in vitro, for inhibiting cyclin D1-Cdk4 in a reconstituted pRb-kinase assay, and for increasing the proportion of G1-phase cells following transfection. 8668202 1996
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR Familial melanoma-associated mutations in p16 uncouple its tumor-suppressor functions. 23190892 2013
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR All other variants detected either constitutionally in familial melanoma patients (I49T, R87P, G101W and V126D) or somatically in melanomas (N71S, and P81L), appeared functionally impaired in this assay. 10389768 1999
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.710 CausalMutation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780 1995
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		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
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. 8595405 1995
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study. 25356972 2015
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. 9699728 1998
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		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
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. 16234564 2005
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		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
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR CDKN2A mutations in Scottish families with cutaneous melanoma: results from 32 newly identified families. 16307646 2005
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR Germline mutations of the CDKN2 gene in UK melanoma families. 9328469 1997
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		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
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		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: rs1060501262
rs1060501262
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1060501263
rs1060501263
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1064794292
rs1064794292
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 GeneticVariation CLINVAR Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients. 19260062 2009
dbSNP: rs1064794292
rs1064794292
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 GeneticVariation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136 2010
dbSNP: rs1064794292
rs1064794292
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1512419
Disease:
Hereditary Melanoma 		T 0.700 GeneticVariation CLINVAR Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation. 19712690 2009