| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.730 | GeneticVariation | BEFREE | The prevalence of type 2N in our VWD cohort was 2.5%, and 5.2% of the general population in Northeast Italy was found heterozygous for the p.R854Q mutation. | 29115006 | 2018 |
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|
0.730 | GeneticVariation | BEFREE | These data strongly suggest a founder effect, with a single R854Q mutation event being the cause of the type 2N von Willebrand's disease in our cohort of patients. | 22875612 | 2013 |
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|
0.730 | GeneticVariation | BEFREE | Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide. | 16953269 | 2006 |
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|
T | 0.730 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | We conclude that R763G is a new type 2N VWD mutation located in the VWF propeptide which alters the proteolytic processing of VWF and consequently its binding to FVIII. | 16953269 | 2006 |
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|
0.010 | GeneticVariation | BEFREE | The common von Willebrand disease type 2N mutation (R91Q) was excluded as a modifying factor in these groups of patients. | 8695835 | 1996 |
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|
0.010 | GeneticVariation | BEFREE | The common von Willebrand disease type 2N mutation (R91Q) was excluded as a modifying factor in these groups of patients. | 8695835 | 1996 |
||||
|
0.010 | GeneticVariation | BEFREE | The common von Willebrand disease type 2N mutation (R91Q) was excluded as a modifying factor in these groups of patients. | 8695835 | 1996 |