| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.710 | GeneticVariation | BEFREE | A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation. | 30864170 | 2019 |
||||
|
0.710 | GeneticVariation | BEFREE | An oncogenic G12D KRAS mutation was detected in both the epidermal component of the EN and in the rhabdomyosarcoma but not in the dermal component of the EN lesion or in unaffected tissues, including normal skin or blood. | 20805368 | 2010 |
||||
|
0.710 | GeneticVariation | BEFREE | Nine of 33 (27%) EN harbored PIK3CA mutations; all cases showed the E545G substitution, which is uncommon in cancers. | 17673550 | 2007 |
||||
|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
T | 0.710 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | Keratinocytic epidermal nevi are associated with mosaic RAS mutations. | 22499344 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Keratinocytic epidermal nevi are associated with mosaic RAS mutations. | 22499344 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT | |||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.800 | GeneticVariation | UNIPROT |