地氟醚;安氟醚;氟烷;异氟醚;甲氧基氟醚;七氟醚;琥珀胆碱,临床注释-2,变异和临床注释数据

id	等位基因	注释文本
826	GG	Patients with the rs118192176 GG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the AA or AG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
825	AG	Patients with the rs118192176 AG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.
824	AA	Patients with the rs118192176 AA genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.

等位基因

注释文本

Patients with the rs118192176 GG genotype may have a decreased, but not absent, risk for malignant hyperthermia based on this variant when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the AA or AG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.

825

Patients with the rs118192176 AG genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.

824

Patients with the rs118192176 AA genotype may develop malignant hyperthermia when treated with volatile anesthetics (desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane) and/or succinylcholine as compared to patients with the GG genotype. Other genetic or clinical factors may also influence the risk for malignant hyperthermia.

id	证据的ID	总结
854	1447987489	Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
853	1447961278	Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
852	1447960979	Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
851	1447960725	Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
850	1447952506	Genotype AG is associated with increased risk of Malignant Hyperthermia when exposed to isoflurane as compared to genotype GG.
849	1447948711	Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
848	1447948701	Genotype AG is associated with increased risk of Malignant Hyperthermia when exposed to succinylcholine and volatile anesthetics as compared to genotype GG.
847	1447675343	Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
846	1447674556	Genotype AG is associated with increased risk of Malignant Hyperthermia when exposed to halothane and succinylcholine as compared to genotype GG.
845	1447674364	Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
844	1447674045	Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
843	1447672839	Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
842	1447672492	Allele A is associated with Malignant Hyperthermia as compared to allele G.
841	1447672429	Genotype AG is associated with Malignant Hyperthermia as compared to genotype GG.
840	1445297032	Allele A is associated with increased risk of Malignant Hyperthermia in people with increased creatine kinase level as compared to allele G.
839	1445198675	Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
838	1445124450	Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.
837	1444697995	Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
836	1444697831	Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.
835	1444697633	Allele A is associated with increased risk of Malignant Hyperthermia, Brain Edema and Brain Ischemia as compared to allele G.
834	1184510579	Allele A is associated with increased risk of Malignant Hyperthermia when exposed to desflurane, enflurane, halothane, isoflurane, sevoflurane or succinylcholine as compared to allele G.
833	1447674795	Genotype AG is associated with sensitivity to caffeine or halothane in muscle.
832	PA166180457	Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1

证据的ID

总结

854

1447987489

Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.

853

1447961278

Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.

852

1447960979

Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.

851

1447960725

Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.

850

1447952506

Genotype AG is associated with increased risk of Malignant Hyperthermia when exposed to isoflurane as compared to genotype GG.

849

1447948711

Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.

848

1447948701

Genotype AG is associated with increased risk of Malignant Hyperthermia when exposed to succinylcholine and volatile anesthetics as compared to genotype GG.

847

1447675343

Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.

846

1447674556

Genotype AG is associated with increased risk of Malignant Hyperthermia when exposed to halothane and succinylcholine as compared to genotype GG.

845

1447674364

Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.

844

1447674045

Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.

843

1447672839

Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.

842

1447672492

Allele A is associated with Malignant Hyperthermia as compared to allele G.

841

1447672429

Genotype AG is associated with Malignant Hyperthermia as compared to genotype GG.

840

1445297032

Allele A is associated with increased risk of Malignant Hyperthermia in people with increased creatine kinase level as compared to allele G.

839

1445198675

Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.

838

1445124450

Genotype AG is associated with increased risk of Malignant Hyperthermia as compared to genotype GG.

837

1444697995

Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.

836

1444697831

Allele A is associated with increased risk of Malignant Hyperthermia as compared to allele G.

835

1444697633

Allele A is associated with increased risk of Malignant Hyperthermia, Brain Edema and Brain Ischemia as compared to allele G.

834

1184510579

Allele A is associated with increased risk of Malignant Hyperthermia when exposed to desflurane, enflurane, halothane, isoflurane, sevoflurane or succinylcholine as compared to allele G.

833

1447674795

Genotype AG is associated with sensitivity to caffeine or halothane in muscle.

832

PA166180457

Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1

id	类型	评论
1229	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1228	Update	Drugs kept combined based on specifics of Malignant Hyperthermia diagnostics and CPIC guideline/EMHG inclusion.
1227	Update	Assigned LOE 1A since variant listed in recommendation of CPIC guideline

类型

1229

Update

CA score added as part of scoring system release. LOE assigned following curator review.

1228

Update

Drugs kept combined based on specifics of Malignant Hyperthermia diagnostics and CPIC guideline/EMHG inclusion.

1227

Update

Assigned LOE 1A since variant listed in recommendation of CPIC guideline