Gene: CDKN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782083
rs587782083
CDKN2A ; CDKN2B-AS1
T 0.700 CausalMutation CLINVAR [CDKN2A-mutation in a family with hereditary malignant melanoma]. 25294512

2014
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: rs759763964
rs759763964
CDKN2A
0.010 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: 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: rs1554656411
rs1554656411
CDKN2A
A 0.700 CausalMutation CLINVAR Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway. 27804060

2017
dbSNP: rs771138120
rs771138120
CDKN2A
0.010 GeneticVariation BEFREE This mutation (replacement of Arg24 by Cys) was first found in patients with hereditary melanoma and renders Cdk4 insensitive to INK4 inhibitors. 11726500

2001
dbSNP: rs104894098
rs104894098
CDKN2A
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: rs104894095
rs104894095
CDKN2A
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: rs754806883
rs754806883
CDKN2A
G 0.700 GeneticVariation CLINVAR The premaxilla and the ancestry of man. 20340316

1947
dbSNP: rs104894097
rs104894097
CDKN2A
G 0.700 CausalMutation CLINVAR The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired. 15945100

2005
dbSNP: rs587780668
rs587780668
CDKN2A
AGGCTCCATGCTGCTCCCCGCCGCC 0.700 GeneticVariation CLINVAR The melanoma-associated 24 base pair duplication in p16INK4a is functionally impaired. 15945100

2005
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 The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. 17171691

2007
dbSNP: rs878853647
rs878853647
CDKN2A
G 0.710 CausalMutation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996
dbSNP: rs121913387
rs121913387
CDKN2A
A 0.700 CausalMutation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996
dbSNP: rs1554653956
rs1554653956
CDKN2A
T 0.700 GeneticVariation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996
dbSNP: rs587780668
rs587780668
CDKN2A
AGGCTCCATGCTGCTCCCCGCCGCC 0.700 GeneticVariation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996
dbSNP: rs864622636
rs864622636
CDKN2A
A 0.700 CausalMutation CLINVAR Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma. 8668202

1996
dbSNP: rs749714198
rs749714198
CDKN2A
A 0.700 GeneticVariation CLINVAR Role of the CDKN2A locus in patients with multiple primary melanomas. 15860862

2005
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 CausalMutation CLINVAR Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy. 19799798

2009
dbSNP: rs730881675
rs730881675
CDKN2A
G 0.700 CausalMutation CLINVAR Regulatory mechanisms of tumor suppressor P16(INK4A) and their relevance to cancer. 21619050

2011
dbSNP: rs730881675
rs730881675
CDKN2A
G 0.700 CausalMutation CLINVAR Rarity of somatic and germline mutations of the cyclin-dependent kinase 4 inhibitor gene, CDK4I, in melanoma. 7923152

1994
dbSNP: rs730881675
rs730881675
CDKN2A
G 0.700 CausalMutation CLINVAR Prospective risk of cancer in CDKN2A germline mutation carriers. 15173226

2004
dbSNP: rs864622263
rs864622263
CDKN2A
C 0.700 CausalMutation CLINVAR Prospective risk of cancer in CDKN2A germline mutation carriers. 15173226

2004
dbSNP: rs104894099
rs104894099
CDKN2A
C 0.700 CausalMutation CLINVAR Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. 9425228

1998