| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. | 26938784 | 2016 |
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|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
0.020 | GeneticVariation | BEFREE | People homozygous for the Asp70His mutation are expected to have prolonged apnoea in response to succinylcholine or mivacurium, similar to people with the Asp70Gly mutation. | 11928765 | 2002 |
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|
0.020 | GeneticVariation | BEFREE | The clinically most important variant is atypical (D70G) BChE because people with this variant have 2 hours of apnea after receiving a dose of succinylcholine that is intended to paralyze muscles for 3-5 minutes. | 10794391 | 2000 |
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|
0.010 | GeneticVariation | BEFREE | Consistency of effects between rs7030789 and rs1409986 in LPAR1 and PTGER3 and apnea phenotypes were observed in independent clinic-based cohorts.Novel genetic loci for apnea phenotypes were identified through the use of customized gene chips and meta-analyses of cohort data with replication in clinic-based samples. | 23155414 | 2012 |
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|
0.010 | GeneticVariation | BEFREE | Logistic regression analysis showed a significant correlation between rs35320474-C/T and T/T genotypes and apnoea and BPD development. | 22462821 | 2012 |
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|
0.010 | GeneticVariation | BEFREE | Consistency of effects between rs7030789 and rs1409986 in LPAR1 and PTGER3 and apnea phenotypes were observed in independent clinic-based cohorts.Novel genetic loci for apnea phenotypes were identified through the use of customized gene chips and meta-analyses of cohort data with replication in clinic-based samples. | 23155414 | 2012 |