Gene: CDKN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501262
rs1060501262
CDKN2A ; CDKN2B-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501263
rs1060501263
CDKN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060501265
rs1060501265
CDKN2A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554653915
rs1554653915
CDKN2A
CGCATC 0.700 GeneticVariation CLINVAR

dbSNP: rs1554654052
rs1554654052
CDKN2A
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554656624
rs1554656624
CDKN2A
G 0.700 CausalMutation CLINVAR

dbSNP: rs1563888944
rs1563888944
CDKN2A
GCT 0.700 GeneticVariation CLINVAR

dbSNP: rs1563889847
rs1563889847
CDKN2A
GT 0.700 CausalMutation CLINVAR

dbSNP: rs398123152
rs398123152
CDKN2A
GC 0.700 CausalMutation CLINVAR

dbSNP: rs786204195
rs786204195
CDKN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs876658534
rs876658534
CDKN2A
AA 0.700 GeneticVariation CLINVAR

dbSNP: rs876660436
rs876660436
CDKN2A
C 0.700 CausalMutation CLINVAR

dbSNP: rs878853644
rs878853644
CDKN2A
A 0.700 GeneticVariation CLINVAR

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: rs1287464120
rs1287464120
CDKN2A ; CDKN2B-AS1
A 0.700 CausalMutation CLINVAR A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. 11571653

2001
dbSNP: rs1563902931
rs1563902931
CDKN2A ; CDKN2B-AS1
A 0.700 CausalMutation CLINVAR A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. 11571653

2001
dbSNP: rs779306249
rs779306249
CDKN2A ; CDKN2B-AS1
TC 0.700 CausalMutation CLINVAR A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. 11571653

2001
dbSNP: rs1287464120
rs1287464120
CDKN2A ; CDKN2B-AS1
A 0.700 CausalMutation CLINVAR A mutation hotspot at the p14ARF splice site. 15856016

2005
dbSNP: rs1563902931
rs1563902931
CDKN2A ; CDKN2B-AS1
A 0.700 CausalMutation CLINVAR A mutation hotspot at the p14ARF splice site. 15856016

2005
dbSNP: rs779306249
rs779306249
CDKN2A ; CDKN2B-AS1
TC 0.700 CausalMutation CLINVAR A mutation hotspot at the p14ARF splice site. 15856016

2005
dbSNP: rs121913384
rs121913384
CDKN2A
0.010 GeneticVariation BEFREE A novel germline mutation p.E88X, associated with hereditary melanoma in two unrelated families, is described. 19523171

2009
dbSNP: rs104894095
rs104894095
CDKN2A
G 0.700 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744

2014
dbSNP: rs104894109
rs104894109
CDKN2A
A 0.700 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744

2014
dbSNP: rs121913387
rs121913387
CDKN2A
A 0.700 CausalMutation CLINVAR A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. 25370744

2014
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. 10869234

2000