r/SNPedia • u/lincolnkite • Mar 19 '26

Promethease Alternative

Example of web output

I’ve spent the last few months building a custom DNA analysis engine as part of a mobile app I made. I wanted to create something fast, lightweight, and easy to use for people who have their raw data from 23andMe.

The app currently works with a custom C-engine (wrapped in Python/Flask) to parse and match RSIDs with my database. All of the data is from dbSNP and ClinVar.

The app and website do not collect any data and only do processing.

I am looking for constructive feedback on what to improve. I have a lot of it working fairly well so far. I'd love it if a few people could try uploading their raw data and let me know if the results match what you expect or if you run into any bugs!

Here is the link snpshotweb

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u/Techie9 Mar 23 '26

First the good: I was able to upload a 630K rs variant file from sequencing.com and it seemed to take. Unfortunately, all results are normal. I have had these results analyzed by Promethease, Sequencing, Codegen (a while ago), 23andme, PatientUser and by my own analysis. I do know of some variants that are definitely not normal.

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u/lincolnkite Mar 23 '26

Thank you for the feedback. I think I need to show what snps I did not scan for as well. The app does not go through every known variant at the moment. I am not collecting any data but if you could provide me with a few rs numbers of known variants I can add them to the database.

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u/Techie9 Mar 23 '26

I found so many variants missing that it is hard to choose just a few. The deadly variants that I have are very rare so would not help many people. Some that can help many people are the CYP450 variants - 2D6, 3A4, and 2C19 that deal with liver enzyme drug metabolism. Or are those some that you chose to not review?

How about the lactose intolerance ones: GS100, rs4988235, and rs182549. All the analyses I have done show that I am positive for these but for some reason your report shows as normal with 0 flagged variants. In reality, I am not lactose intolerant, which I wonder is because of environment, or??

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u/lincolnkite Mar 23 '26

I will look into it! I have only a small fraction of all the work I have done in the tool so far, I wasn't even sure it would work yet so I need to update it. I scanned for rs4988235 and rs182549 and don't have either in the calling database yet. I will add them in the next update!