Research — GeneOps

rs80338943 Frameshift deletion eliminating connexin 26 function; the most common GJB2 deafness allele in East Asian populations causing severe-to-profound prelingual sensorineural hearing loss

Chromosome 13 Risk Allele - Category Neurology & Cognition Tags Hearing Loss, Sensorineural, Congenital, Carrier Status, Reproductive Health

The cochlea converts sound waves into electrical nerve signals through an exquisitely precise ionic mechanism. Connexin 26, encoded by GJB2(https://www.ncbi.nlm.nih.gov/gene/2706) forms the gap junction channels in cochlear support cells that maintain this mechanism. The c.235delC frameshift deletion — rs80338943 in...

rs8065080 Capsaicin receptor variant affecting heat and pain sensitivity

Chromosome 17 Risk Allele C Category Neurology & Cognition Tags Pain Sensitivity, Neurotransmitters, Cardiovascular, Diet, Endocannabinoid

TRPV1 is the molecular gateway to pain in your sensory neurons, a calcium channel that opens in response to noxious heat (above 43°C), acids, and capsaicin — the compound that makes chili peppers burn. The Ile585Val variant(https://pubmed.ncbi.nlm.nih.gov/21616913/) affects how sensitively this channel responds to...

rs9271366 Intergenic eQTL near HLA-DQA1 that tags the DR15 haplotype (DRB1*15:01/DQA1*01:02/DQB1*06:02), the strongest genetic risk factor for multiple sclerosis, and is also associated with SLE and ulcerative colitis

Chromosome 6 Risk Allele G Category Neurology & Cognition Tags Immune & Gut, Immune & Autoimmune, HLA, Neuroinflammation, Autoimmunity

On chromosome 6, in the most gene-dense stretch of the human genome, sits rs9271366 — an intergenic eQTL(https://www.ncbi.nlm.nih.gov/snp/rs9271366) positioned between HLA-DQA1 and HLA-DRB1. The G allele of rs9271366 tags the DR15 haplotype(https://pubmed.ncbi.nlm.nih.gov/27812365/), the classical HLA class II...

rs9275328 Intergenic SNP between HLA-DQB1 and HLA-DQA2 that tags the DQB1*06:02 allele, the third component of the DR15 haplotype (DRB1*15:01/DQA1*01:02/DQB1*06:02), conferring risk for multiple sclerosis, SLE, and narcolepsy; the T allele is protective

Chromosome 6 Risk Allele C Category Neurology & Cognition Tags Immune & Gut, Immune & Autoimmune, HLA, Neuroinflammation, Autoimmunity

On chromosome 6, tucked in the intergenic stretch between HLA-DQB1 and HLA-DQA2 at position 32,699,045 (GRCh38), sits rs9275328 — the third pillar of the DR15 haplotype tag panel. Its C allele marks the presence of DQB106:02(https://pubmed.ncbi.nlm.nih.gov/23257407/), the allele that encodes the DQ beta chain...

rs9320913 Intergenic regulatory variant upstream of POU3F2 (BRN-2), a transcription factor critical for cortical neuron differentiation; the A allele (risk) is the most-replicated genome-wide significant hit for educational attainment, associated with approximately 1 month less schooling per allele via altered POU3F2 expression in fetal and adult brain

Chromosome 6 Risk Allele A Category Neurology & Cognition Tags Cognition, Neuroplasticity, Brain Health, Memory, Neurological Risk

Every human's capacity for learning sits at the intersection of genetics and experience. Among the thousands of common variants that nudge cognitive development, one stands apart for reproducibility: rs9320913, a regulatory variant upstream of POU3F2(https://www.ncbi.nlm.nih.gov/gene/5454) on chromosome 6. First...

rs9349379 Intronic regulatory variant in PHACTR1 that controls endothelin-1 and arterial compliance; the A allele is one of the strongest migraine GWAS hits (OR ~1.08, P=1×10⁻⁴⁷) while the G allele shows the opposite pattern — protective against migraine but a major coronary artery disease risk factor, demonstrating striking pleiotropy across five vascular diseases

Chromosome 6 Risk Allele A Category Neurology & Cognition Tags Migraine, Cardiovascular, Endothelial Health, Blood Pressure, Neurological Risk

A single nucleotide variant sitting in an intron of the PHACTR1 gene on chromosome 6 has one of the most remarkable genetic profiles in cardiovascular and neurological medicine: its two alleles pull risk in opposite directions across five vascular diseases. Carry the A allele and you are predisposed to migraine...