Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554653956
rs1554653956
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		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
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		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
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		T 0.700 GeneticVariation CLINVAR Predicting functional significance of cancer-associated p16(INK4a) mutations in CDKN2A. 20340136

2010
dbSNP: rs1554653956
rs1554653956
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		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
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		T 0.700 GeneticVariation CLINVAR Novel CDKN2A mutation detected in Spanish melanoma pedigree. 20653773

2010
dbSNP: rs1554653956
rs1554653956
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		T 0.700 GeneticVariation CLINVAR Functional impairment of melanoma-associated p16(INK4a) mutants in melanoma cells despite retention of cyclin-dependent kinase 4 binding. 11595726

2001
dbSNP: rs1554653956
rs1554653956
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		T 0.700 GeneticVariation CLINVAR Functional reassessment of P16 variants using a transfection-based assay. 10389768

1999
dbSNP: rs1554653956
rs1554653956
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		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
dbSNP: rs1554653956
rs1554653956
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		T 0.700 GeneticVariation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996
dbSNP: rs1554653956
rs1554653956
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		T 0.700 GeneticVariation CLINVAR Mutational effects on the p16INK4a tumor suppressor protein. 7780957

1995
dbSNP: rs1554653956
rs1554653956
CDKN2A
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		T 0.700 GeneticVariation CLINVAR Mutations associated with familial melanoma impair p16INK4 function. 7647780

1995