Gene: CDKN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894098
rs104894098
CDKN2A
0.710 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019

2013
dbSNP: rs878853647
rs878853647
CDKN2A
0.710 GeneticVariation BEFREE We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. 23371019

2013
dbSNP: rs1060501265
rs1060501265
CDKN2A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501266
rs1060501266
CDKN2A
C 0.700 GeneticVariation CLINVAR Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. 16905682

2007
dbSNP: rs1060501266
rs1060501266
CDKN2A
C 0.700 GeneticVariation CLINVAR CDKN2A: the IVS2-105A/G intronic mutation found in an Italian patient affected by eight primary melanomas. 15009729

2004
dbSNP: rs1060501266
rs1060501266
CDKN2A
C 0.700 GeneticVariation CLINVAR Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family. 22841127

2012
dbSNP: rs1060501266
rs1060501266
CDKN2A
C 0.700 GeneticVariation CLINVAR A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. 11726555

2001
dbSNP: rs1064794292
rs1064794292
CDKN2A
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
CDKN2A
T 0.700 GeneticVariation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs1064794292
rs1064794292
CDKN2A
T 0.700 GeneticVariation CLINVAR Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutation. 19712690

2009
dbSNP: rs1064794292
rs1064794292
CDKN2A
T 0.700 GeneticVariation CLINVAR CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment. 24659262

2014
dbSNP: rs1064794292
rs1064794292
CDKN2A
T 0.700 GeneticVariation CLINVAR Classifying variants of CDKN2A using computational and laboratory studies. 21462282

2011
dbSNP: rs1064794292
rs1064794292
CDKN2A
T 0.700 GeneticVariation CLINVAR CDKN2a/p16INK4a mutations and lack of p19ARF involvement in familial melanoma kindreds. 9856841

1998
dbSNP: rs1064794292
rs1064794292
CDKN2A
T 0.700 GeneticVariation CLINVAR High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families. 17167857

2006
dbSNP: rs1554653915
rs1554653915
CDKN2A
CGCATC 0.700 GeneticVariation CLINVAR

dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780

1995
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom. 25780468

2014
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. 26681309

2016
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Influence of loss of function MC1R variants in genetic susceptibility of familial melanoma in Spain. 20539244

2010
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Mutational effects on the p16INK4a tumor suppressor protein. 7780957

1995
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Novel CDKN2A mutation detected in Spanish melanoma pedigree. 20653773

2010
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Functional reassessment of P16 variants using a transfection-based assay. 10389768

1999
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene. 9439668

1997