| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. | 19443465 | 2009 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. | 19920235 | 2009 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. | 19920235 | 2009 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. | 19443465 | 2009 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. | 19920235 | 2009 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. | 17704776 | 2007 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. | 17704776 | 2007 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. | 17704776 | 2007 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. | 17704776 | 2007 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. | 17704776 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. | 17704776 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. | 17704776 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Distinct requirements for the Sprouty domain for functional activity of Spred proteins. | 15683364 | 2005 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
GTA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |