GeneticCoding Encyclopedia

This variant is a well-replicated genome-wide significant locus associated with habitual sleep duration, including both short and long sleep phenotypes.

A robustly associated genetic locus linked to habitual short sleep duration in large-scale multi-ancestry GWAS cohorts.

A genome-wide significant risk locus identified in cross-biobank analyses for habitual short sleep duration.

This variant in the CLOCK gene is associated with variations in circadian rhythm, chrononutrition, and metabolic parameters in adolescents.

Polymorphism in the CLOCK gene linked to sleep disturbances and metabolic health markers in adolescent populations.

The C allele of this SNP is associated with high-speed walking and is overrepresented in elite sprinters compared to control populations.

The T allele of this variant is identified as a favorable genetic marker for high-speed walking and elite sprinter status.

The T allele of this PPARG variant is linked to favorable high-speed walking performance in elite athletic cohorts.

The A allele of this SNP is associated with favorable high-speed walking performance and is found at higher frequencies in elite sprinters.

This variant in the PD-1 gene is associated with susceptibility to various genitourinary cancers including prostate and renal cell carcinoma.

This common variant at 1p11.2 shows a stronger association with lobular breast cancer histology compared to ductal histology.

This SNP is associated with variations in the regulation of carotenoids, influencing how individuals metabolize nutrients like lutein and zeaxanthin.

A rare splice-site variant in the cardiac troponin T gene identified in individuals of Oceanian ancestry with diverse cardiac phenotypes.

A genetic variant significantly associated with increased multiple sclerosis risk specifically within Native American haplotypes.

This variant is investigated for its association with the clinical efficacy of methotrexate in patients with rheumatoid arthritis.

This SNP on chromosome 11 shows genome-wide significance for systolic blood pressure response to bisoprolol treatment.

This SNP is linked to an age-protective methylation marker in collagen genes, influencing perceived facial aging.

This SNP is associated with a damaging methylation marker linked to facial aging phenotypes.

This missense variant (p.Ala486Thr) in the OCA2 gene is associated with human pigmentation traits, including eye and skin color variation.

This synonymous variant in the gonadotropin-releasing hormone receptor gene is studied for its potential role in modulating reproductive hormone responsiveness.

This variant is located in an intron of HERC2 and acts as a major regulatory marker for OCA2 expression, strongly influencing human eye color variation.

A variant in the SGLT2 gene associated with clinical outcomes and response to dapagliflozin in heart failure patients.

This variant shows borderline significance for association with celiac disease in the Dutch population.

The C allele of this variant is associated with an increased risk of chronic obstructive pulmonary disease (COPD) in the Chinese Han population.

This variant is significantly associated with ductal carcinoma in situ (DCIS) in younger patients.

This intronic variant in the GRID2 gene has been identified as significantly associated with azoospermia and severe oligozoospermia in a recent GWAS of Greek males.

This SNP shows a significant interaction with sun exposure regarding perceived facial aging progression.

This variant is in high linkage disequilibrium with primary signals associated with perceived facial aging progression.

This variant in the COL8A1 gene has been investigated for its potential role in modulating the variable expressivity of North Carolina Macular Dystrophy.

This synonymous variant is in high linkage disequilibrium with functional alleles that influence human skin, hair, and eye pigmentation.

This variant is a genome-wide significant locus associated with peanut allergy risk across multiple international cohorts.

A variant identified as a significant association signal in recent multi-ancestry fine-mapping studies of Alzheimer's disease.

This intronic variant in the SERPINB gene cluster is associated with increased susceptibility to food allergy.

This variant is associated with lower stress scores and has been identified as a potential protective factor against physical and mental stress.

This variant has been identified in the CARDIA Fitness Study as having a significant interaction with baseline cardiorespiratory fitness levels regarding incident hypertension risk.

The G-allele of this variant has been associated with a positive impact on healthy lifespan in human cohorts.

This variant is associated with habitual sleep duration and was identified as a genetic instrument in studies evaluating the effects of sleep on biological aging.

This SNP is a validated genetic marker used in risk scores to study the relationship between sleep duration and health outcomes.

This SNP is linked to lipid metabolism and is considered a novel genetic factor in precision nutrition research.

This variant is associated with variations in Vitamin D metabolism and circulating levels of 25(OH)D.

This variant has been identified as a novel marker associated with lipid metabolism and cardiovascular risk profiles.

A pleiotropic variant linked to longevity and age-related disease risk profiles.

This SNP is identified as a pleiotropic locus associated with longevity, Alzheimer's, and coronary artery disease.

This missense variant (p.Phe374Leu) is a major determinant of human skin, hair, and eye pigmentation, showing strong evidence of selection in European populations.

This variant in the complement factor H gene is associated with altered regulation of the alternative complement pathway and increased susceptibility to age-related macular degeneration.

This regulatory variant in the aromatase gene is associated with circulating estradiol levels and the timing of natural menopause.

This regulatory variant in the WNT4 locus is a well-established genetic marker associated with susceptibility to endometriosis, though its effect size and significance vary across ethnic populations.

This regulatory variant in the CFH locus is linked to complement system dysregulation and is a recognized genetic risk factor for age-related macular degeneration.

This variant in the ABCA1 locus is associated with the regulation of cholesterol efflux and the formation of nascent high-density lipoprotein (HDL) particles.

This variant in the LY86 gene, which encodes the MD-1 protein, is associated with immune response modulation and lipopolysaccharide-mediated signaling pathways.

This promoter regulatory variant in the NFE2L2 gene modulates antioxidant response pathway activity and is linked to ferroptosis resistance and oxidative stress-related phenotypes.

This variant near the CCR5 locus is a well-characterized host genetic factor influencing HIV acquisition and disease progression.

Recent clinical reviews indicate that HTR2A variants do not currently support actionable clinical antidepressant guidance.

Current evidence-based reviews conclude that SLC6A4 variants do not currently support actionable clinical antidepressant guidance.

This intergenic variant near the PAX8 gene is a well-replicated genetic marker associated with variations in habitual sleep duration.

This variant is associated with ACE activity levels, though current CPIC guidelines prioritize other markers for clinical ACE inhibitor dosing.

This variant in the WNT4 locus is significantly associated with the risk of endometriosis and influences reproductive tract development.

This variant in the DENND1A gene has been investigated for polycystic ovary syndrome (PCOS) susceptibility, though recent studies indicate it lacks a significant correlation with PCOS in certain populations like the Chinese Han.

This variant in the aromatase gene is associated with circulating estrogen levels and influences the timing of natural menopause and cardiovascular risk profiles in postmenopausal women.

This intronic regulatory variant in MEIS1 is a primary risk locus for restless legs syndrome, influencing gene expression in the developing telencephalon.

A fine-mapped regulatory variant within the MEIS1 locus associated with restless legs syndrome and periodic limb movements during sleep.

While historically investigated for cluster headache susceptibility, recent large-scale meta-analyses and genetic association studies have yielded inconsistent or non-significant results regarding its clinical impact.

This intronic variant in the CRY1 gene is associated with delayed sleep-wake phase disorder (DSWPD) and has been linked to variations in glycemic parameters and insulin resistance.

This variant (c.1293G>C) is located in the CYP2E1 gene and is studied for its influence on the metabolism of substrates such as ethanol and various procarcinogens.

This variant (p.Asn453Ser, formerly Val432Leu) in the CYP1B1 gene is associated with altered enzyme activity and has been investigated for susceptibility to various cancers, including breast and prostate cancer.

This variant is a pathogenic mutation in the MYH7 gene associated with hypertrophic cardiomyopathy.

This variant in the DAPK1 gene has been investigated for potential associations with Alzheimer's disease and Parkinson's disease risk.

This variant is a pathogenic mutation in the MYH7 gene associated with hypertrophic cardiomyopathy.

This variant is a pathogenic mutation in the MYH7 gene associated with hypertrophic cardiomyopathy.

This variant is a pathogenic mutation in the HBB gene associated with beta-thalassemia.

This variant is an uncharacterized single nucleotide variation with no established clinical significance.

This rsID is not currently recognized as a valid, stable SNP in major public databases like dbSNP or Ensembl.

This variant is an uncharacterized single nucleotide variation with no established clinical significance.

This variant is an uncharacterized single nucleotide variation with no established clinical significance.

This variant is an uncharacterized single nucleotide variation with no established clinical significance.

This variant is an uncharacterized single nucleotide variation with no established clinical significance.

This variant is a rare, uncharacterized single nucleotide variation with no established clinical significance in major databases.

This variant is an uncharacterized single nucleotide variation with no established clinical significance.

This variant is an uncharacterized single nucleotide variation with no established clinical significance.

This variant is an uncharacterized single nucleotide variation with no established clinical significance.

This variant is an uncharacterized single nucleotide variation with no established clinical significance.

A polymorphism in the CTH gene investigated for potential associations with preeclampsia, though results have been inconsistent across studies.

A functional missense variant (p.Asp358Ala) in the IL6R gene associated with increased levels of soluble IL-6 receptor and modulation of inflammatory responses.

The VKORC1 -1639G>A promoter variant reduces vitamin K epoxide reductase subunit 1 expression, requiring lower therapeutic warfarin maintenance doses to prevent bleeding complications.

Defines the CYP2C19*17 increased function allele, conferring rapid or ultrarapid metabolism for CPIC-actionable drugs including clopidogrel, PPIs, and SSRIs.

The CYP2C19*2 loss-of-function splicing defect results in impaired biotransformation of prodrugs including clopidogrel and altered clearance of proton pump inhibitors and select antidepressants.

The ALDH2*2 Glu504Lys dominant-negative substitution impairs toxic acetaldehyde clearance during ethanol metabolism, increases alcohol-induced facial flushing, and diminishes hemodynamic responsiveness to sublingual nitroglycerin.

Defines the non-functional CYP3A5*3 allele, dictating CPIC guideline-based dosing adjustments for tacrolimus in solid-organ transplant recipients.

Pathogenic missense variant (p.Ser113Leu) in CPT2 causing carnitine palmitoyltransferase II deficiency, predominantly the adult myopathic form.

This variant is a well-established risk factor for colorectal and prostate cancer susceptibility.

This variant in the GABRG2 gene is associated with variations in response to certain anticonvulsant medications and epilepsy susceptibility.

This variant is a well-established genetic risk factor for multiple sclerosis, specifically associated with the HLA-DRB1*15:01 allele.

This variant in the CD33 gene is associated with altered CD33 protein expression and efficacy of the leukemia drug gemtuzumab ozogamicin.

This variant is strongly associated with increased body mass index and obesity risk.

This SNP is a primary determinant of human skin pigmentation variation globally.

This variant influences the splicing of CD33 and is associated with the efficacy of gemtuzumab ozogamicin therapy in acute myeloid leukemia.

This variant in the TCF7L2 gene is one of the strongest genetic risk factors for the development of type 2 diabetes across multiple ethnic groups.

This variant is located in the CDKN2B-AS1 region and is a well-established risk factor for primary open-angle glaucoma and associated optic disc traits.

This variant is associated with manganese levels and risk of neurological and inflammatory conditions.

This 'Duffy-null' variant is associated with benign ethnic neutropenia and an increased risk of clozapine-induced neutropenia, while providing protection against Plasmodium vivax malaria.