| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Functional analysis of 11 novel GBA alleles. | 24022302 | 2014 |
||||
|
0.800 | GeneticVariation | UNIPROT | The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. | 11933202 | 2002 |
||||
|
0.800 | GeneticVariation | UNIPROT | Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. | 8780099 | 1996 |
||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | Functional analysis of 11 novel GBA alleles. | 24022302 | 2014 |
||||
|
0.700 | GeneticVariation | UNIPROT | The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. | 11933202 | 2002 |
||||
|
0.700 | GeneticVariation | UNIPROT | Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. | 8780099 | 1996 |
||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
GC | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |