PGx question regarding RSIDs with more than one variant associated with it
0
0
Entering edit mode
13 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 • 234 views
ADD COMMENT

Login before adding your answer.

Traffic: 3310 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6