醋硝香豆素,临床注释-2,变异和临床注释数据

id	等位基因	注释文本
714	*3	The CYP2C93 allele is assigned as a no function allele by CPIC. Patients with CYP2C93 in combination with a normal, decreased, or no function allele may have increased risk of bleeding when treated with acenocoumarol as compared to patients with two normal function alleles. However, conflicting evidence has been reported. This drug-variant pair has been assigned a 鈥渘o recommendation鈥?by DPWG, as it was determined to be not clinically actionable.Other genetic and clinical factors may also influence the risk of bleeding when treated with acenocoumarol.
713	*2	The CYP2C92 allele is assigned as a decreased function allele by CPIC. Patients with CYP2C92 in combination with a normal, decreased, or no function allele may have increased risk of bleeding when treated with acenocoumarol as compared to patients with two normal function alleles. However, conflicting evidence has been reported. This drug-variant pair has been assigned a 鈥渘o recommendation鈥?by DPWG, as it was determined to be not clinically actionable.Other genetic and clinical factors may also influence the risk of bleeding when treated with acenocoumarol.
712	*1	The CYP2C91 allele is assigned as a normal function allele by CPIC. Patients carrying CYP2C91 allele in combination with another normal function allele may have a decreased risk of bleeding when treated with acenocoumarol as compared to patients carrying at least one copy of a decreased function or no function allele. However, conflicting evidence has been reported. This drug-variant pair has been assigned a 鈥渘o recommendation鈥?by DPWG, as it was determined to be not clinically actionable.Other genetic and clinical factors may also influence the risk of bleeding when treated with acenocoumarol.

等位基因

注释文本

The CYP2C9*3 allele is assigned as a no function allele by CPIC. Patients with CYP2C9*3 in combination with a normal, decreased, or no function allele may have increased risk of bleeding when treated with acenocoumarol as compared to patients with two normal function alleles. However, conflicting evidence has been reported. This drug-variant pair has been assigned a 鈥渘o recommendation鈥?by DPWG, as it was determined to be not clinically actionable.Other genetic and clinical factors may also influence the risk of bleeding when treated with acenocoumarol.

713

The CYP2C9*2 allele is assigned as a decreased function allele by CPIC. Patients with CYP2C9*2 in combination with a normal, decreased, or no function allele may have increased risk of bleeding when treated with acenocoumarol as compared to patients with two normal function alleles. However, conflicting evidence has been reported. This drug-variant pair has been assigned a 鈥渘o recommendation鈥?by DPWG, as it was determined to be not clinically actionable.Other genetic and clinical factors may also influence the risk of bleeding when treated with acenocoumarol.

712

The CYP2C9*1 allele is assigned as a normal function allele by CPIC. Patients carrying CYP2C9*1 allele in combination with another normal function allele may have a decreased risk of bleeding when treated with acenocoumarol as compared to patients carrying at least one copy of a decreased function or no function allele. However, conflicting evidence has been reported. This drug-variant pair has been assigned a 鈥渘o recommendation鈥?by DPWG, as it was determined to be not clinically actionable.Other genetic and clinical factors may also influence the risk of bleeding when treated with acenocoumarol.

id	证据的ID	总结
323	1448602417	CYP2C9 3 is associated with increased risk of Hemorrhage and Stroke when treated with acenocoumarol or warfarin in people with Atrial Fibrillation and venous thromboembolism as compared to CYP2C9 1.
322	1448602404	CYP2C9 2 is associated with increased risk of Hemorrhage and Stroke when treated with acenocoumarol or warfarin in people with Atrial Fibrillation and venous thromboembolism as compared to CYP2C9 1.
321	1447519366	CYP2C9 2 + 3 are not associated with increased risk of Hemorrhage when treated with acenocoumarol or warfarin as compared to CYP2C9 1/1.
320	1444707481	CYP2C9 1/3 + 3/3 are not associated with increased risk of Hemorrhage when treated with acenocoumarol as compared to CYP2C9 1/1.
319	1444707430	CYP2C9 3/3 is associated with increased risk of Hemorrhage when treated with acenocoumarol and indomethacin as compared to CYP2C9 1/1.
318	1444707240	CYP2C9 1/2 + 2/2 + 3/3 + 1/3 + 2/3 are associated with increased risk of Hemorrhage when treated with acenocoumarol as compared to CYP2C9 1/1.
317	1444707161	CYP2C9 1/2 + 1/3 + 2/2 + 3/3 are associated with increased likelihood of Hemorrhage when treated with acenocoumarol as compared to CYP2C9 1/1.
316	1444706532	CYP2C9 1/2 + 3/3 + 2/3 + 1/3 + 2/2 are not associated with increased risk of Hemorrhage when treated with acenocoumarol in people with Atrial Fibrillation as compared to CYP2C9 1/1.
315	1444703983	CYP2C9 2 + 3 is associated with increased risk of Hemorrhage when treated with warfarin in people with Alcoholism as compared to CYP2C9 *1.
314	1449269136	Allele C is associated with increased risk of Gastrointestinal Hemorrhage and Death when treated with acenocoumarol in people with Cardiovascular Diseases as compared to allele A.
313	1449190803	Allele C is associated with increased likelihood of Hemorrhage when treated with acenocoumarol or warfarin in people with venous thromboembolism as compared to allele A.
312	827814788	Allele C is not associated with bleeding events when treated with acenocoumarol or warfarin.
311	982044597	Genotypes AC + CC are not associated with risk of Gastrointestinal Hemorrhage when treated with acenocoumarol as compared to genotype AA.
310	1449190810	Allele T is not associated with likelihood of Hemorrhage when treated with acenocoumarol or warfarin in people with venous thromboembolism as compared to allele C.
309	982044565	Genotypes CT + TT are associated with increased risk of Gastrointestinal Hemorrhage when treated with acenocoumarol as compared to genotype CC.

证据的ID

总结

323

1448602417

CYP2C9 *3 is associated with increased risk of Hemorrhage and Stroke when treated with acenocoumarol or warfarin in people with Atrial Fibrillation and venous thromboembolism as compared to CYP2C9 *1.

322

1448602404

CYP2C9 *2 is associated with increased risk of Hemorrhage and Stroke when treated with acenocoumarol or warfarin in people with Atrial Fibrillation and venous thromboembolism as compared to CYP2C9 *1.

321

1447519366

CYP2C9 *2 + *3 are not associated with increased risk of Hemorrhage when treated with acenocoumarol or warfarin as compared to CYP2C9 *1/*1.

320

1444707481

CYP2C9 *1/*3 + *3/*3 are not associated with increased risk of Hemorrhage when treated with acenocoumarol as compared to CYP2C9 *1/*1.

319

1444707430

CYP2C9 *3/*3 is associated with increased risk of Hemorrhage when treated with acenocoumarol and indomethacin as compared to CYP2C9 *1/*1.

318

1444707240

CYP2C9 *1/*2 + *2/*2 + *3/*3 + *1/*3 + *2/*3 are associated with increased risk of Hemorrhage when treated with acenocoumarol as compared to CYP2C9 *1/*1.

317

1444707161

CYP2C9 *1/*2 + *1/*3 + *2/*2 + *3/*3 are associated with increased likelihood of Hemorrhage when treated with acenocoumarol as compared to CYP2C9 *1/*1.

316

1444706532

CYP2C9 *1/*2 + *3/*3 + *2/*3 + *1/*3 + *2/*2 are not associated with increased risk of Hemorrhage when treated with acenocoumarol in people with Atrial Fibrillation as compared to CYP2C9 *1/*1.

315

1444703983

CYP2C9 *2 + *3 is associated with increased risk of Hemorrhage when treated with warfarin in people with Alcoholism as compared to CYP2C9 *1.

314

1449269136

Allele C is associated with increased risk of Gastrointestinal Hemorrhage and Death when treated with acenocoumarol in people with Cardiovascular Diseases as compared to allele A.

313

1449190803

Allele C is associated with increased likelihood of Hemorrhage when treated with acenocoumarol or warfarin in people with venous thromboembolism as compared to allele A.

312

827814788

Allele C is not associated with bleeding events when treated with acenocoumarol or warfarin.

311

982044597

Genotypes AC + CC are not associated with risk of Gastrointestinal Hemorrhage when treated with acenocoumarol as compared to genotype AA.

310

1449190810

Allele T is not associated with likelihood of Hemorrhage when treated with acenocoumarol or warfarin in people with venous thromboembolism as compared to allele C.

309

982044565

Genotypes CT + TT are associated with increased risk of Gastrointestinal Hemorrhage when treated with acenocoumarol as compared to genotype CC.

id	类型	评论
992	Update	Added sentence about DPWG 'no recommendation' to phenotype descriptions
991	Update	CA score added as part of scoring system release. LOE assigned following curator review.
990	Update	Minor edits to phenotype descriptions
989	Update	updated text
988	Update	Reworded phenotype descriptions
987	Update	Added PMID 21148049, 17653141, 23932037, 23104259
986	Create