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by manimino 1209 days ago
Promethease (1) is a great site for doing this. You upload a genome (which they promise to delete), and download an HTML interactive report. The report spans thousands of studies, and it will tell you about any rare genetic disorders or interesting findings.

The cost is about $18, one time, iirc.

(1) https://promethease.com/

1 comments

Do not stop at Promethease! I have been doing this for myself and others for the last 10 years. Promethease is great but misses several SNPs that are included in the raw data that may have an impact. Some other helpful websites:

https://www.ncbi.nlm.nih.gov/snp/

https://www.uniprot.org/

https://www.snp-nexus.org/v4/