Genetics Genetics Research
CHROMOSOME 5 INTERGENIC GENE VIEW INTERGENIC ?q23 ?q25 rs2082412 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs2082412 G / A · INTERGENIC HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs2082412

Gene: INTERGENIC — Intergenic / Genome-wide Chr 5:159290781
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.762311A 0.237689GG 0.587883GA/AG 0.348856AA 0.063261pop=557,972 ↬
African G 0.62788A 0.37212GG 0.398378GA/AG 0.458998AA 0.142624pop=57,704
African American G 0.6294A 0.3706GG 0.400122GA/AG 0.45855AA 0.141327pop=55,658
African Others G 0.5865A 0.4135GG 0.350929GA/AG 0.471163AA 0.177908pop=2,046
Asian G 0.52263A 0.47737GG 0.279373GA/AG 0.48651AA 0.234117pop=16,086
East Asian G 0.51497A 0.48503GG 0.26792GA/AG 0.494096AA 0.237984pop=12,026
European G 0.799422A 0.200578GG 0.639544GA/AG 0.319756AA 0.040701pop=426,432
Latin American 1 G 0.7013A 0.2987GG 0.494989GA/AG 0.412636AA 0.092375pop=9,180
Latin American 2 G 0.61925A 0.38075GG 0.382681GA/AG 0.473145AA 0.144174pop=17,576
Other G 0.73487A 0.26513GG 0.546666GA/AG 0.376417AA 0.076917pop=27,172
Other Asian G 0.5453A 0.4547GG 0.3133GA/AG 0.464039AA 0.22266pop=4,060
South Asian G 0.6596A 0.3404GG 0.443223GA/AG 0.432758AA 0.124019pop=3,822

Studies3

Unread Studies3 ▼
1

Investigation of the Relationships Between IL-12B and IL-23 Receptor Polymorphisms with Behçet's Disease in a Turkish Population.

Study ↗ PDF ↗
PID
Beh&#xe7;et's disease is a chronic, multisystem inflammatory disorder characterized by recurrent mucocutaneous and ocular manifestations, in which genetic factors, particularly cytokine gene polymorphisms, are thought to contribute to disease susceptibility. This study aimed to investigate the association of Interleukin-12B and Interleukin-23R gene polymorphisms and haplotype distributions with Beh&#xe7;et's disease in Denizli, a province of Turkey. A total of 88 patients with Beh&#xe7;et's dise…

2026 · Arıkan S, Öztürk O, Atalay A et al.

2

Genetic variations in interleukin-12B in allergic rhinitis.

Study ↗ PDF ↗
PID
Interleukin (IL)-12B is a key regulator in the protection against allergic reaction induced by various allergens in patients with allergic rhinitis (AR). This study was performed to investigate the associations between single nucleotide polymorphisms in the IL-12B gene and AR in a Chinese Han population. A total of 543 patients with AR and 600 healthy controls were genotyped for IL-12B/rs6887695, rs10045431, rs3212227, rs3212217, and rs2082412 using polymerase chain reaction (PCR) restriction fr…

2016 · Wei P, Kou W, Zhang C et al.

3

Investigation of 20 non-HLA (human leucocyte antigen) psoriasis susceptibility loci in Chinese patients with psoriatic arthritis and psoriasis vulgaris.

Study ↗ PDF ↗
PID
Recently, a number of non-HLA (human leucocyte antigen) psoriasis genetic susceptibility loci have been identified through genome-wide association studies, but data on their association with psoriatic arthritis (PsA) are lacking. To investigate recently identified psoriasis susceptibility loci in a cohort of Chinese patients with PsA, psoriasis vulgaris (PsV) and healthy controls. Twenty single-nucleotide polymorphisms (SNPs) from 20 loci were selected for genotyping in 379 patients with PsA, 59…

2013 · Yang Q, Liu H, Qu L et al.

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.