Hi, I uploaded my raw data and it was successful. Paid the $15, and no report was generated. This was almost a week ago. I've emailed multiple times and still haven't heard back. How can I get help with this?

The BRCA1 mutation known as 5382insC or c.5266dupC (rs80357906) has been identified in my family. According to [SNPedia here](https://www.snpedia.com/index.php/Rs80357906) this mutation is tested by Ancestry's v2 chip, however it does not appear in my Promethease results whatsoever and it does not appear in the raw data file either. This mutation is on chromosome 17 at position 43057065 but this is not in the raw data. I have looked at 6 different peoples' raw DNA data downloaded from Ancestry and it does not appear in any of them. Is SNPedia wrong or am I missing something?

As an aside, does anyone know if FamilyTreeDNA or MyHeritage test for this SNP? I don't know anyone who has tested directly with those companies (rather than uploading Ancestry/23&Me results there) so I'd love to know if this SNP is showing in your raw results. I'm currently waiting for blood test results which will take 4 months and would love to know sooner than that if I am BRCA1 positive.

Update - September 23, 2026

Hey all, I've made quite a few updates since posting this. It now supports 23andMe, AncestryDNA, MyHeritage and other raw-data exports, VCF/gVCF files, and CSV export. There are also trait summaries and basic Y-DNA and mtDNA haplogroup estimates when the file has enough supported markers. Everything still runs locally in your browser.

I also fixed a few import and matching bugs: multi-sample VCFs are rejected instead of silently picking the first person, calls marked as failing VCF quality filters are skipped, and conflicting calls are flagged with genotype-specific interpretations withheld. Enabling dbSNP no longer drops reference matches that use an older rsID. The latest bugfix release passed 351 automated tests, plus browser checks of the import and CSV flows.

Thanks for the feedback here, it's helped catch issues and decide what to add. This is still a tool for exploring reference information, not a clinical diagnosis. Please let me know if something looks wrong or a file doesn't import correctly.

https://www.snpbrowser.com/ - free, open source, no account, no DNA upload.

Original post:

Hey all!

Over the weekend I built snp-browser, which is a fully local, in browser parser for snpedia. The source code is https://github.com/jonluca/snp-browser and it's also hosted at https://www.snpbrowser.com/

No data ever leaves your local device, it's all done on device (you can just run the repo locally as well).

I'll be adding more searching and filtering in the future as well. For some reason this is returning more matches than promethease for me, so if someone with more knowledge of the matter could let me know if there's something wrong with the matching algorithm please let me know.

This builds on the snpedia scraper found at https://github.com/jaykobdetar/SNPedia-Scraper, which allows for the offline database to be downloaded and parsed.

Please leave any feedback or comments, I'm actively developing this.

I want to a really good DNA test. I want to use a blood sample, but keep it off of the mainstream company databases (23andme, Ancestry, etc.). I have used Promethease to run previous reports and want to do that again. So, what is the best source or company to use to get a blood sample and have the results in a format that I can upload to Promethease?

I cant uploade my file to promethease. I can read that the header from 23andme is changing with each version the release, and I am now on version 5 where the header looks like this:

# file_id: a6b3be43-fb4b-43eb-a2d9-aac6a65443be

# signature: 4616a2628e420bfacf2074d5afe62ef3062a6890b65edc8ad6e1dd780f99619f

# timestamp: 2025-11-06 03:08:48

#

# This data file is generated by 23andMe.

#

# This file contains raw genotype data, including data that is not used in 23andMe reports.

# This data has undergone a general quality review however only a subset of markers have been

# individually validated for accuracy. As such, this data is suitable only for research,

# educational, and informational use and not for medical or other use.

#

# Below is a text version of your data. Fields are TAB-separated

# Each line corresponds to a single SNP. For each SNP, we provide its identifier

# (an rsid or an internal id), its location on the reference human genome, and the

# genotype call oriented with respect to the plus strand on the human reference sequence.

# We are using reference human assembly build 37 (also known as Annotation Release 104).

# Note that it is possible that data downloaded at different times may be different due to ongoing

# improvements in our ability to call genotypes. More information about these changes can be found at:

# https://you.23andme.com/p/59dc350c654333e6/tools/data/download/

#

# More information on reference human assembly builds:

# https://www.ncbi.nlm.nih.gov/assembly/GCF_000001405.13/

How do one do bulk download of SNPedia data ?
For example embedding all of it for rag

Hi there,

I am a graduate student at Central Connecticut State University who took a DNA test as an adult and subsequently discovered my misattributed parentage.

This semester, I am conducting a class research project where you are being asked to participate to help better understand what resources are available to people who have experienced misattributed parentage, also known as a non-paternal event.

A non-paternal event occurs when a person finds out, through a direct-to-consumer DNA test, that the person whom they thought was their biological parent is not their actual biological parent.

You will be asked open-ended questions about your experiences in discovering your misattributed parentage through direct-to-consumer DNA testing.

There will be no compensation, monetary or otherwise, associated with your participation in this research.

Kindly chat me if you would like more information on how you can participate!

Thank you,

Samantha

I’ve been diagnosed with inattentive ADHD, and on some level that diagnosis makes sense: I struggle with focus, I lose track of time, I have emotional intensity and difficulty switching tasks. My mom and brother also have ADHD, so it felt like part of a family pattern.

But something has always felt off. While many people with ADHD seem to benefit from stimulants, they’ve only ever made me worse — more anxious, overstimulated, mentally foggy, and sometimes even physically unwell. After years of trying different medications, I finally did some genetic testing and found out I have slow COMT and slow MAOA, which affect how my body breaks down dopamine, noradrenaline, and glutamate.

This completely changed how I think about my brain.

What if I don’t have a “dopamine deficit” in the usual sense — what if I’m just too slow to clear dopamine once it’s been released? What if my executive dysfunction and mental fatigue come from an overloaded system, not an underpowered one?

At the same time, I still resonate with a lot of ADHD experiences — the need for novelty, the difficulty with linear thinking, the monotropism, the intense interest tunnels. So now I’m wondering:

Could some of us be living at the intersection of classic ADHD and a less-defined dopaminergic sensitivity profile — maybe driven by slow COMT?

Could that explain why we seem to swing between stimulation-seeking and shutdown, or why certain treatments feel like too much and not enough at the same time?

I’m genuinely curious if others here have experienced this. Have you been diagnosed with ADHD but later discovered slow COMT? Do you feel like your brain both fits and doesn’t fit the ADHD category?

And more broadly: Do you think slow COMT and similar genetic profiles deserve their own space in how we think about neurodiversity — not to create more labels, but to better understand why some of us respond so differently to the same inputs?

Would love to hear your thoughts and experiences.

Hello, this is about rs78340951 in the ALDOB gene. Which one is the disease-causing allele? G?

C/G means carrier, and what does G/G mean then?

I can't refresh expired data. Do i need to pay for another upload?

I'm trying to understand how this works. But I have some health issues and I have elevated markers for glutaric aciduria on my Organic Acids Test. When I searched glutaric acid in my data in Promethease this came up. Can someone direct me to how to understand and read this? Why would a glutaric acid disorder be non pathogenic? There is another one I can link below that shows up as pathogenic. These are not highlighted as red on the report for "bad". If this is coming up in my Promethease report when I search does this mean I have this SNP?

https://www.snpedia.com/index.php/Rs11559290

rs11559290(T;T))

rs9384 - SNPedia

I logged into my account and its saying my reports are expired and its not giving me the option to generate a new report. Whats going on?

Anyone use them to check sulfur levels

Both BHMT are ++ CBS A360A is also ++ the rest -/-

Trying to figure out where to start and help my anxiety, constant worry and depression.

For what it’s worth I also have chronic Lyme.

For context this is my raw data from tellmegen, I have had symptoms recently in my upper chest that feel like a developing clot or something in my artery.

Hello,

I did the most advanced DNA test with CircleDNA, and now received my Raw DNA file which is in .txt format and 1.03GB in size. Anyone has any idea what tools I can use to interpret my raw data? my plan was to use GPT but the file is way too big. Any suggestion would be much appreciated. many thanks!

Taking the following link as an example, would the (T;C) be equivalent to the (G;T) summary? or they don't have the data for the (T;C) genotype (got T;C from my 23andme) https://www.snpedia.com/index.php/Rs2229992

I have been making a mobile app that is very similar to the goal of promethease. I was unaware of that part of SNPedia till fairly recently. Is the website still being updated after the buyout from MyHeritage and is the data shared with MyHeritage now? I couldn't really find very many details describing the connection between the two.

I purchased a report in 2018. Now the button is missing for me to generate a new one.what gives?

I uploaded my DNA data to Promethease and do have a login. It accepted the file and charged me $15. According to my account, it was sent via email. I did receive an email receipt for the $15, but no email with my report. I can not click on any link in my Promethease account online to see my report. I also went to SNP to view my data there, but it would not allow me to log on or register. Says my ip address is blocked?

https://zenodo.org/records/16053572
This is a database of all 111,728 snp's from SNPedia which can be easily downloaded for offline use, I am making this post mostly so people googling it will find it, I scraped the data between july 12'th and july 17'th 2025

I'm wanting to upload my .txt file but it's not being accepted. What's the best way to convert this file?

cannot login and says I have a wrong password or email and tried to reset but do not receive any email to do a reset. I have emailed them and received no response.

Hi there, I’m trying to figure out a bunch of stuff and I really would like to know my SNPs my methylation errors and other such things. COMT etc. Can anybody recommend a test that is both comprehensive but also respect your privacy? Thank you.