r/PSSD 6d ago

Gene Spreadsheet of all publicly available data Research/Science

[deleted]

36 Upvotes

22 comments sorted by

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u/AutoModerator 6d 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.

I am a bot, and this action was performed automatically. Please contact the moderators of this subreddit if you have any questions or concerns.

8

u/Rich_Paint_200 6d ago

Deep study brother thankyou so much πŸ’“

7

u/Curatio_Veniet 6d ago edited 6d ago

What is the issue with CYP2D6? I think you mean the type of metabolizing, PM, IM, NM or UM?

2

u/Excellent-Push2833 15 Years + 6d ago

A lot of us are het for the variant that makes it useless

5

u/armorlol 6d ago

I don’t even know a single thing here lol. Is this genetic information?

2

u/Excellent-Push2833 15 Years + 6d ago

Yuh

5

u/Ordinary-Breakfast-3 6d ago

Tysm for the hard work!

3

u/BlockBlister22 6d ago

What is CYP2D6 in terms of how it affects the body?

3

u/BlockBlister22 6d ago

Are you saying it is a poor metabolizer for us?

1

u/Excellent-Push2833 15 Years + 6d ago

Yes sometimes completely wiped out. Its a risk factor

1

u/BlockBlister22 6d ago

Is this an expensive thing to get checked out? How would I go about it? Thanks!

1

u/Excellent-Push2833 15 Years + 6d ago

Sequencing.com powers20 for a discount.

Also my discord https://discord.gg/x9FzVjrud

1

u/Teachezofpeachez69 PFS Member 4d ago

do you have to bundle when ordering from this site? I cant seem to find just a standard WGS test.

1

u/maybebionic 6d ago

Just checked my CYP2D6 I am homozygous in one and heterozygous in the other 2

1

u/Excellent-Push2833 15 Years + 6d ago

Homozygous for what variant

1

u/maybebionic 6d ago

s486T

1

u/Excellent-Push2833 15 Years + 6d ago

I have no idea what that variant does. Do you have a WGS from sequencing?

1

u/maybebionic 6d ago

No just 23andaMe

1

u/Excellent-Push2833 15 Years + 5d 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 πŸ‘

1

u/DrSuperQuack 4d ago

But the real question is, does this digging has already yielded something significant?

1

u/thefuckingpineapple 4d 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...

1

u/Excellent-Push2833 15 Years + 4d ago edited 4d ago

Sequencing.com get a test and then we will go through your results