| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.030 | GeneticVariation | BEFREE | • p.E148Q variants have no impact on clinical symptoms and laboratory findings in Henoch-Schönlein purpura patients. | 30826945 | 2019 |
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0.030 | GeneticVariation | BEFREE | Key points • p.M694V mutation is more common in Henoch-Schönlein purpura than in the general population. | 30826945 | 2019 |
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|
0.030 | GeneticVariation | BEFREE | Subjects with rs3743930-GC or CC and rs28940580-GA or AA genotype have the highest HSP risk, compared to subjects with rs3743930-GG and rs28940580-GG genotype; OR (95% CI) was 2.13 (1.52-2.89). | 27796522 | 2017 |
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|
0.030 | GeneticVariation | BEFREE | MEFV mutations, especially, E148Q and M694V, mutations might be associated with HSP and may affect clinical presentation and laboratory findings in HSP patients. | 23981758 | 2013 |
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|
0.030 | GeneticVariation | BEFREE | Leucocyte counts, erythrocyte sedimentation rates, serum C-reactive protein (CRP) concentrations, number of patients with increased CRP levels and number of patients with increased immunoglobulin A concentrations were found to be higher in patients with MEFV mutations. p.M694V was the most frequent mutation and was found to have effects on clinical and laboratory findings in children with HSP. | 21231959 | 2011 |
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|
0.030 | GeneticVariation | BEFREE | Our results suggest that MEFV E148Q could be a contributory genetic factor to HSP and HSP-related joint syndromes. | 20602240 | 2010 |
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|
0.010 | GeneticVariation | BEFREE | Subjects with rs3743930-GC or CC and rs28940580-GA or AA genotype have the highest HSP risk, compared to subjects with rs3743930-GG and rs28940580-GG genotype; OR (95% CI) was 2.13 (1.52-2.89). | 27796522 | 2017 |
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0.010 | GeneticVariation | BEFREE | P369S was not associated with HSP or other phenotypes. | 20602240 | 2010 |