PGx question regarding RSIDs with more than one variant associated with it
Entering edit mode
15 months ago
Roy ▴ 10

Hi all,

I am attempting to build a database of rsid's that can be used to predict the function of certain drugs via the metabolism levels of a gene, then compare it to my WES data.

I am running into concerns where I see an rsid that is associated with multiple variants; for example, the CYP2C19*2 allele has an rsid of rs4244285, but the KEGG website states this as p.P227=, where pharmvar states 3 variants: 12662A>G (splice defect), 19154G>A (splice defect), 80161A>G (I331V).....but no word of the P227= variant?

How am I to know which one to trust? I was also just annotated my WES with the RSIDs....would I have to be more specific and annotate by the cdot/pdot as well?

Thanks, Roy

pharmacogenomics rsid pgx • 251 views

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