Re: Any chance someone could help me make sense of a…
u/drwillpowers
r/DrWillPowers2026-04-07T01:29:40Z
Dr Will Powers’ own statements and theorizing
Summary (paraphrased)
Reply to someone anxious about SNP-array results. Powers says the SNPs flagged by consumer tools are well-known common glitches carried by many healthy people with good outcomes; the variants that matter don't appear on SNP arrays at all. His example: a PFS patient whose ancestry.com results were completely normal and whose sequencing VCF showed nothing — only by browsing the entire BAM file did he discover a UGT2B17 deletion invisible to every other method. Real assessment, he says, means loading genetics into gene.iobio against his ~300-gene list and manually reviewing every variant, which takes him 8–12 hours per genome. He likens SNP-peeking tools to looking through a mansion's keyhole trying to read a document in the basement: they only surface negatives and miss beneficial variants.
Key points (paraphrased)
- Consumer SNP arrays miss the variants that matter; common flagged SNPs are often benign.
- UGT2B17 deletion case: invisible on ancestry.com and VCF, found only via full BAM review.
- Method: manual gene.iobio review of ~300 genes, 8–12 hours per genome, variant by variant.
- SNP tools bias toward negatives and miss protective/beneficial variants.
Why it’s in the corpus
A methodological cornerstone: Powers' claim that standard genotyping misses the causal structural variants underpins his entire genetics program and explains why conventional genetic studies appear negative — directly relevant to the corpus's genetics and methods sections.
Context — the post Powers was replying toVerbatim third-party text, shown for context only — not Powers’ statement. Usernames removed.ShowHide
Powers' comment replies to a community member:
Your line about how it's a cruel trick of nature has me worried, I won't lie. Is it straight up possible that I just won't be able to actually transition with this unfortunate set of genes?
(Parent context recovered from the r.genit.al mirror on 2026-10-07; Powers' comment text itself is from John's user-provided export.)
Some fields on this page come from the release’s Markdown edition, which carries text the JSON edition omits.
Related records
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u/drwillpowers · r/DrWillPowers
Powers' key genetics-first post: he proposed a specific PFS phenotype whose "base, core defect" is defective UGT2B17, disabling testosterone's main glucuronidation exit pathway. Carriers show shockingly low 3α-androstanediol glucuronide and near-zero urinary…
AKR1C1AKR1C2AKR1C3AKR1C4HSD17B2+3DWP-0032026PFSCore corpus - Powers gene claim
UGT2B17 — defective (major)
Confidence: direct
A defective UGT2B17 disables the main glucuronidation exit pathway for testosterone — the "base, core defect" of this PFS phenotype. Carriers show shockingly low 3α-androstanediol glucuronide and near-zero urinary testosterone on DUTCH despite normal serum T…
UGT2B17PGL-UGT2B17circa May 2026 (archived 2026-05-08)PFSCore corpus
