Variant Phenotype Annotation
证据URL
https://www.pharmgkb.org/variantAnnotation/1448124824
总结
Genotype AC is not associated with severity of Drug Toxicity when treated with capecitabine in people with Colorectal Neoplasms as compared to genotype AA.
得分
This annotation is not used for clinical annotation scoring. Low number of subjects carried the variant, 1 out of 142 cases and 0 out of 330 control in Arm A and 1 out of 192 cases and 1 out of 340 controls in Arm B. Article mentioned also "Most patients with severe myelosuppression carried a rare DPYD allele: *2A, 2846T>A, *13 or A551T", with *13 being rs55886062.