Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
GC | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
ACGGG | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
AG | 0.700 | CausalMutation | CLINVAR | ||||||
|
GC | 0.700 | CausalMutation | CLINVAR | ||||||
|
AGGCTCCATGCTGCTCCCCGCCGCC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
AGCC | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6. | 17909018 | 2007 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families. | 11506491 | 2001 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred. | 15304098 | 2004 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. | 12700603 | 2003 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Analysis of p16INK4a and its interaction with CDK4. | 8573142 | 1996 |
|||
|
AGGCTCCATGCTGCTCCCCGCCGCC | 0.700 | CausalMutation | CLINVAR | Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. | 9416844 | 1997 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. | 9416844 | 1997 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. | 8570179 | 1995 |