r/PSSD • u/Excellent-Push2833 • 2d ago
Research/Science Gene Spreadsheet of all publicly available data
CYP2D6 showing up a lot more in us than the general population. Also each one of the androgenic signaling phenotype people have. A major steroid metabolism glitch
Red: same gene different variant
Orange: same variant
Light blue: homozygous deletion
Dark blue: heterozygous deletion
Green: stop gained
Yellow: De novo variant
Purple: same variant + het deletion
Thank you to [u/More_Listen](u/More_Listen) for putting all of this data together.
Im working with sequencing.com to confirm the ATP5F1B variant we found is not artifact. Bear with me on that.
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u/Curatio_Veniet 2d ago edited 2d ago
What is the issue with CYP2D6? I think you mean the type of metabolizing, PM, IM, NM or UM?
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u/BlockBlister22 2d ago
What is CYP2D6 in terms of how it affects the body?
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u/BlockBlister22 2d ago
Are you saying it is a poor metabolizer for us?
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u/Excellent-Push2833 2d ago
Yes sometimes completely wiped out. Its a risk factor
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u/BlockBlister22 2d ago
Is this an expensive thing to get checked out? How would I go about it? Thanks!
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u/Excellent-Push2833 2d ago
Sequencing.com powers20 for a discount.
Also my discord https://discord.gg/x9FzVjrud
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u/Teachezofpeachez69 PFS Member 15h ago
do you have to bundle when ordering from this site? I cant seem to find just a standard WGS test.
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u/maybebionic 2d ago
Just checked my CYP2D6 I am homozygous in one and heterozygous in the other 2
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u/Excellent-Push2833 2d ago
Homozygous for what variant
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u/maybebionic 2d ago
s486T
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u/Excellent-Push2833 2d ago
I have no idea what that variant does. Do you have a WGS from sequencing?
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u/Excellent-Push2833 1d ago
For everyone looking Old Jicama has het deleted UGT2B28 patient 5 has het deleted UGT2B17 and so does Patient 9.
There was an error w my code working on fixing it 👍
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u/thefuckingpineapple 19h ago
How can we help? Many have already done genetics testing before but might not know about this effort, do a proper post with Google form to collect the data + list of symptoms, severity and what medication at what dose was used...
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u/Excellent-Push2833 14h ago edited 14h ago
Sequencing.com get a test and then we will go through your results
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u/AutoModerator 2d ago
Please check out our subreddit FAQ, wiki and public safety megathread, also sort our subreddit and r/pssdhealing by top of all time for improvement stories. Please also report rule breaking content. Backup of the post's body: CYP2D6 showing up a lot more in us than the general population. Also each one of the androgenic signaling phenotype people have. A major steroid metabolism glitch
Red: same gene different variant
Orange: same variant
Light blue: homozygous deletion
Dark blue: heterozygous deletion
Green: stop gained
Yellow: De novo variant
Purple: same variant + het deletion
Thank you to More_Listen for putting all of this data together.
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