CDKN2A, cyclin dependent kinase inhibitor 2A, 1029
N. diseases: 1314; N. variants: 146
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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CGCATC | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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GCT | 0.700 | GeneticVariation | CLINVAR | |||||||||
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GT | 0.700 | CausalMutation | CLINVAR | |||||||||
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GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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AA | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. | 11726555 | 2001 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. | 11571653 | 2001 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. | 11571653 | 2001 | ||||||
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TC | 0.700 | CausalMutation | CLINVAR | A melanoma-associated germline mutation in exon 1beta inactivates p14ARF. | 11571653 | 2001 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A mutation hotspot at the p14ARF splice site. | 15856016 | 2005 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A mutation hotspot at the p14ARF splice site. | 15856016 | 2005 | ||||||
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TC | 0.700 | CausalMutation | CLINVAR | A mutation hotspot at the p14ARF splice site. | 15856016 | 2005 | ||||||
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0.010 | GeneticVariation | BEFREE | A novel germline mutation p.E88X, associated with hereditary melanoma in two unrelated families, is described. | 19523171 | 2009 | |||||||
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G | 0.700 | CausalMutation | CLINVAR | A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. | 25370744 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. | 25370744 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A short acidic motif in ARF guards against mitochondrial dysfunction and melanoma susceptibility. | 25370744 | 2014 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. | 10869234 | 2000 |