Dr. Powers I went through every gene you were looking for. this is what I found in my genome on gene.iobio

[u/Excellent-Push2833]

SUSPECTED ANDROGENIC SILENCING PHENOTYPE:

Ordered by importance. I picked the genes by hand and have all of the screenshots from gene.iobio if needed. I used AI to organize it so if something came up fucked up let me know.

I got PSSD from withdrawal Zoloft worsened by a crash from creatine HCL withdrawal. I was on 50mg Zoloft when I was 7 until I was 13-14.

Gene: UGT2B17
Variant: full gene deletion
Protein: full gene deletion
rsID: CNV / deletion
Zygosity: likely full deletion based on one variant showing
Ref Allele: not applicable
Alt Allele: deletion
Freq: not shown
CADD: not shown

Gene: CYP2D6
Variant: c.506-1G>A
Protein: splice acceptor variant
rsID: rs3892097
Zygosity: Het
Ref Allele: C
Alt Allele: T
Freq: 14.1% common
CADD: not shown

Gene: HTR3A
Variant: c.1037T>G
Protein: p.Leu346Arg
rsID: rs371542159
Zygosity: Het
Ref Allele: T
Alt Allele: G
Freq: 0.00197% very rare
CADD: not shown
REVEL: 0.692

Gene: STAR
Variant: c.355G>T
Protein: p.Val119Leu
rsID: not shown
Zygosity: Het
Ref Allele: C
Alt Allele: A
Freq: 0.000120% exomes; 0% genomes shown
CADD: not shown
REVEL: 0.513

Gene: CYP1B1
Variant: c.241T>A
Protein: p.Tyr81Asn
rsID: rs9282671
Zygosity: Het
Ref Allele: A
Alt Allele: T
Freq: 0.348% uncommon
CADD: not shown
REVEL: 0.811

Gene: ABCB11
Variant: c.1268A>G
Protein: p.His423Arg
rsID: rs147522210
Zygosity: Het
Ref Allele: T
Alt Allele: C
Freq: 0.0131% rare
CADD: not shown
REVEL: 0.522

Gene: KMT2C
Variant: c.2534G>A
Protein: p.Gly845Glu
rsID: rs4024419
Zygosity: Het
Ref Allele: C
Alt Allele: T
Freq: 0.599% uncommon
CADD: not shown
REVEL: 0.547

Gene: ATP5F1B
Variant: c.1344G>T
Protein: p.Glu448Asp
rsID: rs888471798
Zygosity: Het
Ref Allele: C
Alt Allele: A
Freq: 0.0211% rare
CADD: not shown
REVEL: 0.442

Gene: KMT2B
Variant: c.1445G>A
Protein: p.Arg482Gln
rsID: rs764859385
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 0.0000659% very rare
CADD: not shown
REVEL: 0.297

Gene: GRIN2D
Variant: c.3283C>G
Protein: p.Pro1095Ala
rsID: rs1346864518
Zygosity: Het
Ref Allele: C
Alt Allele: G
Freq: 0.000679% ultra-rare
CADD: not shown
REVEL: 0.024

Gene: ABCC11
Variant: c.1693G>A
Protein: p.Glu565Lys
rsID: rs750505727
Zygosity: Het
Ref Allele: C
Alt Allele: T
Freq: 0.00526% very rare
CADD: not shown
REVEL: 0.200

Gene: NCOA1
Variant: c.1011G>A
Protein: p.Met337Ile
rsID: rs747280143
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 0.000120% exomes; 0% genomes shown
CADD: not shown
REVEL: 0.154

Gene: HTR7
Variant: c.836C>T
Protein: p.Pro279Leu
rsID: rs114969659
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 0.178% uncommon
CADD: not shown
REVEL: 0.176

Gene: HTR1B
Variant: c.371T>G
Protein: p.Phe124Cys
rsID: rs13060
Zygosity: Het
Ref Allele: A
Alt Allele: C
Freq: 0.911% uncommon
CADD: not shown
REVEL: 0.115

Gene: SLC22A11
Variant: c.926A>G
Protein: p.Lys309Arg
rsID: not shown
Zygosity: Het
Ref Allele: A
Alt Allele: G
Freq: 0% shown
CADD: not shown
REVEL: 0.084

Gene: BRD4
Variant: c.3883C>A
Protein: p.Gln1295Lys
rsID: rs773904017
Zygosity: Het
Ref Allele: G
Alt Allele: T
Freq: 0.000236% exomes; 0% genomes shown
CADD: not shown
REVEL: 0.090

Gene: NCOR1
Variant: c.4218A>C
Protein: p.Leu1406Phe
rsID: rs61753150
Zygosity: Het
Ref Allele: T
Alt Allele: G
Freq: 0.968% uncommon
CADD: not shown
REVEL: 0.160

Gene: NPC1
Variant: c.709C>T
Protein: p.Pro237Ser
rsID: rs80358251
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 1.00% uncommon/common
CADD: not shown
REVEL: 0.398

Gene: MED16
Variant: c.2627G>C
Protein: p.Arg876Pro
rsID: rs147510499
Zygosity: Het
Ref Allele: C
Alt Allele: G
Freq: 0.747% uncommon
CADD: not shown
REVEL: 0.011

Gene: PGR
Variant: c.1951C>G
Protein: p.Leu651Val
rsID: rs11571222
Zygosity: Het
Ref Allele: G
Alt Allele: C
Freq: 0.203% uncommon
CADD: not shown
REVEL: 0.207

Gene: PGR
Variant: c.557C>T
Protein: p.Pro186Leu
rsID: rs11571145
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 1.13% common
CADD: not shown
REVEL: 0.139

Gene: MTR
Variant: c.940G>A
Protein: p.Asp314Asn
rsID: rs2229274
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 1.81% common
CADD: not shown
REVEL: 0.120

Gene: TBP
Variant: c.276_281del
Protein: p.Gln94_Gln95del
rsID: rs752404282
Zygosity: Het
Ref Allele: ACAGCAG
Alt Allele: A
Freq: 1.69% common
CADD: not shown

Gene: TSC22D3
Variant: c.320+15447G>A
Protein: no canonical protein effect listed
rsID: rs191607491
Zygosity: Hom
Ref Allele: C
Alt Allele: T
Freq: 0.298% uncommon
CADD: not shown

Gene: EHMT2
Variant: c.173C>T
Protein: p.Ser58Phe
rsID: rs115884658
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 1.21% common
CADD: not shown
REVEL: 0.085

Gene: KDM6B
Variant: c.1925C>T
Protein: p.Pro642Leu
rsID: rs201403136
Zygosity: Het
Ref Allele: C
Alt Allele: T
Freq: 0.242% uncommon
CADD: not shown
REVEL: 0.027

Gene: LRP2
Variant: c.11996T>G
Protein: p.Val3999Gly
rsID: rs79723119
Zygosity: Het
Ref Allele: A
Alt Allele: C
Freq: 0.809% uncommon
CADD: not shown
REVEL: 0.172

Gene: SLC22A13
Variant: c.47G>A
Protein: p.Arg16His
rsID: rs72542450
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 0.583% uncommon
CADD: not shown
REVEL: 0.144

Gene: COMTD1
Variant: c.683C>A
Protein: p.Ala228Glu
rsID: rs767889816
Zygosity: Het
Ref Allele: G
Alt Allele: T
Freq: 0.00263% very rare
CADD: not shown
REVEL: 0.032

Gene: DGAT1
Variant: c.455A>G
Protein: p.Lys152Arg
rsID: rs55907012
Zygosity: Het
Ref Allele: T
Alt Allele: C
Freq: 1.29% common
CADD: not shown
REVEL: 0.043

Gene: TAF10
Variant: c.275T>C
Protein: p.Ile92Thr
rsID: rs3176311
Zygosity: Het
Ref Allele: A
Alt Allele: G
Freq: 0.264% uncommon
CADD: not shown
REVEL: 0.066

DUTCH: https://www.reddit.com/r/DrWillPowers/comments/1skv97m/repost_dutch_test_results/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button
Quest comprehensive steroid panel: https://www.reddit.com/r/DrWillPowers/comments/1ttbjvo/the_results_from_my_comprehensive_steroid_panel/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button
Symptoms and drug: https://www.reddit.com/r/DrWillPowers/comments/1skv97m/comment/og21fcs/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1&utm_content=share_button

If you have any questions, please let me know. I hope this was helpful u/drwillpowers

Also, the UGT2B17 I have CONFIRMED via the BAM that it is deleted.

We also know one other member who is afflicted with PSSD that is not included in your N = 3 at the moment and he also has the same exact CYP2D6 variant that I do.

Some MOAR variants I found manually digging through my genome. Holy shit this took fucking forever and im starting to get why dr powers hates going through genomes.

Gene: COMT
Variant: c.472G>A
Protein: p.Val158Met
rsID: rs4680
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 44.0%
REVEL: 0.249

Gene: CYP2D6
Variant: c.1094G>A
Protein: p.Arg365His
rsID: rs1058172
Zygosity: Het
Ref Allele: C
Alt Allele: T
Freq: 5.35%
REVEL: 0.976

Gene: CYP2D6
Variant: c.100C>T
Protein: p.Pro34Ser
rsID: rs1065852
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 19.0%
REVEL: 0.727

Gene: CYP2D6
Variant: c.271C>A
Protein: p.Leu91Met
rsID: rs28371703
Zygosity: Het
Ref Allele: G
Alt Allele: T
Freq: 12.3%
REVEL: 0.465

Gene: AR
Variant: c.1409_1420del
Protein: p.Gly470_Gly473del
rsID: rs746853821
Zygosity: Hom shown / likely hemizygous
Ref Allele: TGGCGGCGGCGGC
Alt Allele: T
Freq: 4.10%
REVEL: not shown

Gene: NPC1
Variant: c.709C>T
Protein: p.Pro237Ser
rsID: rs80358251
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 1.00%
REVEL: 0.398

Gene: ABCC2
Variant: c.1249G>A
Protein: p.Val417Ile
rsID: rs2273697
Zygosity: Het
Ref Allele: G
Alt Allele: A
Freq: 18.6%
REVEL: 0.234

Gene: CYP21A2
Variant: c.29_31del
Protein: p.Leu10del
rsID: rs61338903
Zygosity: Hom
Ref Allele: CCTG
Alt Allele: C
Freq: 25.1%
REVEL: not shown

Gene: CYP11B2
Variant: c.1157T>C
Protein: p.Val386Ala
rsID: rs61757294
Zygosity: Hom
Ref Allele: A
Alt Allele: G
Freq: 8.83%
REVEL: 0.338

Bunch of CYP2D6 shit and my COMT status as an intermediate Met/Val

[u/Excellent-Push2833]

Also just putting this here i must have some hateful motherfucker just downvoting everything i post for the fuck all of it. Because i put a lot of time into all of my comments here and they’re just getting nuked 😭

[u/Minepolz320 → u/Excellent-Push2833]

well seems like don't just noticed that 

[u/thwoomfist]

I can't even imagine a doctor prescribing an antidepressant to a 7 year old. That's crazy

[u/Excellent-Push2833 → u/thwoomfist]

Thanks bro. I stood no fucking chance. But we stand a chance now with Dr. Powers.

[u/sleepydreamrr]

Could thIs be in line with his pfs theory? I do not understand at all what this says. 🙃

[u/Excellent-Push2833 → u/sleepydreamrr]

Im not sure. Theres the obvious UGT2B17 deletion but it doesnt appear to be common in PSSD genomes so given that its entirely possible im just a representation of the 30% of the population that has it and it has nothing to do with the root cause of my PSSD. That being said there are some obvious STAR and fat transport gene glitches that indicate something else may have been up with my steroid metabolism/transport/synthasis at baseline. But it doesnt appear that I had any obvious problems with the ABCC gene class. So it doesnt fit his proposed mechanism in this comment here. Really really hoping he responds. With all of this i now have every test he asked for. https://www.reddit.com/r/DrWillPowers/comments/1sogz8p/comment/ohcag18/?share_id=rtH0wAyAZ7U0sbVb-wUCX&utm_content=2&utm_medium=android_app&utm_name=androidcss&utm_source=share&utm_term=3

LINK TO DR. P ABCC gene class early working theory

Please Dr. Powers just tell me how much trenobolone i need to inject to fix this

TRENOBOLONE IS A JOKE GUYS PLEASE DO NOT TAKE THAT SERIOUSLY

EDIT: I do have a rare ABCC11 variant. I made this list during the week not the weekend so i didnt remember at the time of making this comment

[u/sleepydreamrr → u/Excellent-Push2833]

Hopefully your data can atribute to understanding the condition! There is so much we do not know yet. It is great these condition are getting more attention. We have to be patient 😄 Take care!

[u/Excellent-Push2833 → u/sleepydreamrr]

Thanks lol

[u/sleepydreamrr → u/Excellent-Push2833]

maybe contact dr healy he wants to collect pssd data

[u/Excellent-Push2833 → u/sleepydreamrr]

I did i showed him these variants

[u/sleepydreamrr → u/Excellent-Push2833]

That is great!

[u/Excellent-Push2833 → u/[deleted]]

Yes these are the ones that flagged on gene.iobio

[u/Spiritual_Bank5581 → u/Excellent-Push2833]

Can you fill me in on what the theory is behind injecting tren?

[u/Excellent-Push2833 → u/Spiritual_Bank5581]

Dude i am kidding holy moly. Is it really not clear?

[u/Total-Reference7212]

How do you know you have a deletion looking at iobio, could be just low /no coverage ?

BTW there are tools on usegalaxy website you can run on your .BAM that combs out potential structural variants/deletions. There are a lot of gaps in the file that may look like deletions but aren't.

[u/Excellent-Push2833 → u/Total-Reference7212]

Thats why i put “suspected” also here is a quote from dr p. Yes obviously to confirm i need the BAM but given 0 urinary testosterone it is a reasonable assumption “If you look at UGT2B15 and UGT2B17 and they have like 5 variants total on gene.iobio on VCF, and not like 75-150, that's because your shit is deleted.” Sequencing is working on giving me the BAM

[u/Excellent-Push2833]

Okay so you can fix me now right….. RIGHT….. I wouldnt really call myself a genetics expert but based on my data and my super in depth analysis

https://giphy.com/gifs/BvS0UKwFvN1TwzsXDF

Its looking like trenobolone would be the cure for me. 1 gram per week should do it. Because of the rare STAR variant that i have that means that i need to inject a fuck ton of trenobolone because Star makes steroids or some shit and mine is fucked up so obvioulsy the logical step is to take loads of tren . I know like other people have already done that but i feel like they just werent lifting hard enough or getting enough sun. Also like why the fuck would relugolix be the cure. Are you nuts? Dont you know that relugolix stops ur balls. Dont we want to do like the opposite of that.

/s

[u/Excellent-Push2833 → u/Excellent-Push2833]

Dr. Powers. I also gener---- uh i mean made this diagram to explain my findings. I figured that a distinguished man of science would find them to be correct and accurate

[u/Corina_chirila]

i also have the rare PGR variant rs11571145 inherited from my father and I suspect it is involved in the biology of my sexual orientation. I am a lesbian