Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
TG | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
G | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.700 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
G | 0.800 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). | 15086927 | 2004 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
0.010 | GeneticVariation | BEFREE | The frequencies of the four missense mutations (c.G349A [p.E117K], c.G1339A [p.E447K], c.G1802C [p.G601A], c.C2398T [p.R800C]) were much higher and one (c.A3230G [p.N1077S]) was lower in FSGS patients than in controls. | 31216994 | 2019 |