Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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GT | 0.700 | CausalMutation | CLINVAR | ||||||||||
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G | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | ||||||||||
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GA | 0.700 | CausalMutation | CLINVAR | ||||||||||
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A | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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0.010 | GeneticVariation | BEFREE | M694V gene mutation may be associated with increased frequency of abdominal pain, arthritis and the presence of amyloidosis. | 19777236 | 2010 |
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0.010 | GeneticVariation | BEFREE | Patients with P369S have higher abdominal pain, chest pain and fever than expected. | 28483595 | 2017 |
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0.010 | GeneticVariation | BEFREE | Regarding the docetaxel phase, high levels of abdominal pain and mucositis were related to CBR3 gene (rs8133052) polymorphism and diabetes respectively. | 31056713 | 2020 |
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0.010 | GeneticVariation | BEFREE | Significant increase in abdominal pain and arthritis was found in patients with homozygote M694V mutation compared to those with E148Q mutation. | 19777236 | 2010 |
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0.010 | GeneticVariation | BEFREE | The frequency of abdominal pain was significantly lower in patients with homozygous R202Q alteration (p = 0.021), whereas patients with heterozygous R202Q mutations, though not statistically significant, had a higher frequency of arthralgia/myalgia (40.0 %, p = 0.05). | 24718488 | 2014 |
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0.010 | GeneticVariation | BEFREE | Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain. | 31443670 | 2019 |
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0.010 | GeneticVariation | BEFREE | This is the first report linking the rs6795970 mutation with postoperative abdominal pain in humans. | 31642403 | 2019 |