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11 or 12% is the frequency of the allele. Everyone has two alleles. So out of all the alleles in a population (twice the population), how many are C? That's the allele frequency. The proportion of people who have two copies of the minor allele is fairly rare - around 1%. Online calculator for...

I might be missing something, but I think it's wrong. If it's talking about what bases would be seen on the reverse strand, the minor allele C would swap to G, as it says, but the common allele T would not correspond to C, it would swap to A.

Where is this from?

Checking the DecodeME summary stats: So the minor allele, C, is the risk allele, consistent with the case report. The p-value is 0.038, which is not very strong evidence, though. Maybe this is a recessive variant, in which case there would be no effect if there was only one copy of C, and it...

I think it could potentially be inferred from the text: It appears that the paper is saying that the patient's problem is consistent with overactivity of the mineralocorticoid receptor (MR). It also says that the variant that causes a valine substitution causes overactivity of the receptor...

Most likely, she has two copies of the minor allele, C, though I don't see her explicitly say that. The T allele is very common. rs5522 on dbSNP - See the row for European in the Allele Frequency table: C=0.110877 A=0.000000, T=0.889123

Only one month so far: So potentially temporary like a previous intervention: And just noting:

Spironolactone for ME/CFS in a Patient Homozygous for rs5522 (I180V): A Case Report Donnellan, Patricia Abstract Background: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a debilitating condition with no consistently effective treatment. The mineralocorticoid receptor variant...

Thread for this one: https://www.s4me.info/threads/mucosal-vaccination-in-mice-provides-protection-from-diverse-respiratory-threats-2026-zhang-et-al.48932/

Oh, ok thanks. I was going by this statement from the site, but I see that it could also mean 9000 of those who consented. I see that >17,000 people consented, which is great.

Great to hear. It's interesting that only 9,000 of 15,000 pwME consented to further analysis. I understand if some don't want their data used by other research teams, but I would think that if they had the option, almost everyone would consent to further research by the same lab.

This seems nonsensical. Rehab and biological research are complementary? I think the researchers can continue their work in the lab just fine without subjecting patients to unevidenced reatments. Biological research is like a hip replacement? What..?

I'm really glad you copied to everyone. This is very impactful.

I made a thread for your paper, now that it's up: A Disequilibrium Oncotic Model of Brain Fluid Flux, 2026, Edwards

A Disequilibrium Oncotic Model of Brain Fluid Flux Edwards, Jonathan [Line break added] Abstract Application of the revised Starling model proposed by Levick and Michel (2010) suggests that cerebrospinal fluid (CSF) production is essential for maintenance of a low interstitial protein content...

If it was specifically the PVN, I think it'd be more interesting. But it seems like what you quoted is an AI mentioning PVN linking to NEGR1 because it's the area of interest that was asked about, while in reality NEGR1 may be involved everywhere in the brain. And if the question was about any...

Discussion after the above post regarding interferon and Dr. John Chia has been moved to the thread: John Chia - Clinician/Researcher

Ah, ok, so the idea is, if there are significant hits near a gene, plus significant hits near multiple enhancers or promoters which encourage expression of that gene, it might be more likely to be relevant. I just brushed up on the basics of what promoters and enhancers are with this video...

I haven't really been able to follow what exactly you're doing. Maybe you could lay out your overarching plan, and maybe describe what everything in one row of the table on this webpage means?

By my calculation, NEGR1 is a bit closer: Lead variant of the locus is at: chr1:73,126,414 NEGR1: chr1:71,395,943-72,282,539 LRRIQ3: chr1:74,026,015-74,198,187 Distance to NEGR1: 73126414 - 72282539 = 843875 Distance to LRRIQ3: 74026015 - 73126414 = 899601 Though the difference is so small...