Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
0.010 | GeneticVariation | BEFREE | The SNPs rs2277923 and rs3729753 are prominent single nucleotide variations (SNVs) in Chinese patients with sporadic atrial septal defect. | 30982828 | 2019 |
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0.010 | GeneticVariation | BEFREE | Additionally, p.Phe145Leu in NKX2-5 associates with high degree atrioventricular block and atrial septal defect ( P<1.4×10<sup>-4</sup>). | 30354339 | 2018 |
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|
0.010 | GeneticVariation | BEFREE | As a result, a novel heterozygous NKX2.5 mutation, p.Q181X, was identified in an index patient with ASD and AVB, with a prevalence of ~1.61%. | 28259982 | 2017 |
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0.010 | GeneticVariation | BEFREE | This novel mutation (p.Tyr256X) was inherited in a three-generation family causing five individuals to have cardiac anomalies ranging from ASD to arrhythmias. | 16896344 | 2006 |
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0.010 | GeneticVariation | BEFREE | We found one previously documented NKX2-5 missense mutation, T178M, in members of a family with ASD without AV conduction block. | 12798584 | 2003 |
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|
0.020 | GeneticVariation | BEFREE | The SNPs rs2277923 and rs3729753 are prominent single nucleotide variations (SNVs) in Chinese patients with sporadic atrial septal defect. | 30982828 | 2019 |
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|
0.020 | GeneticVariation | BEFREE | One single nucleotide polymorphism (rs2277923), the frequency of which was significantly higher in ASD group, and the allele and genotype were associated with the occurrence of ASD. | 26297999 | 2016 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR |