CHROMOSOME 6 CCR6 6q27 GENE VIEW CCR6 · 6q27 6q26 6q28 rs3093023 — ~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 rs3093023 G / A · CCR6 · 6q27 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

rs3093023

Gene: CCR6 — C-C Motif Chemokine Receptor 6 Chr 6:167120802 6q27 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.598408A 0.401592GG 0.366199GA/AG 0.464418AA 0.169383pop=596,282
African G 0.84741A 0.15259GG 0.718217GA/AG 0.258378AA 0.023405pop=56,398
African American G 0.84562A 0.15438GG 0.714927GA/AG 0.261391AA 0.023683pop=54,386
African Others G 0.8956A 0.1044GG 0.807157GA/AG 0.176938AA 0.015905pop=2,012
Asian G 0.57478A 0.42522GG 0.332093GA/AG 0.485367AA 0.18254pop=16,128
East Asian G 0.56352A 0.43648GG 0.318536GA/AG 0.489978AA 0.191486pop=12,074
European G 0.564491A 0.435509GG 0.319028GA/AG 0.490925AA 0.190047pop=468,316
Latin American 1 G 0.6713A 0.3287GG 0.45222GA/AG 0.438106AA 0.109674pop=6,802
Latin American 2 G 0.70368A 0.29632GG 0.498562GA/AG 0.410242AA 0.091197pop=13,904
Other G 0.60563A 0.39437GG 0.37751GA/AG 0.456232AA 0.166258pop=26,092
Other Asian G 0.6083A 0.3917GG 0.372472GA/AG 0.471633AA 0.155895pop=4,054
South Asian G 0.607A 0.393GG 0.373988GA/AG 0.466096AA 0.159917pop=8,642

Studies8

Unread Studies8
1
PID
C-C chemokine receptor 6 (CCR6) is a susceptibility gene of various immune-related diseases, which was suggested to be shared with immunoglobulin A nephropathy (IgAN). In this study, we aimed to identify the functional variants. First, we analyzed the associations of CCR6 common and rare variants detected by multi-platform chips with IgAN susceptibility using imputation and identified 68 significantly associated common variants located in the regulatory region. Among them, rs3093023 showed both…
2
PID
Polymorphisms of the CC chemokine receptor 6 (CCR6) and RNASET2 tag SNP have been shown to be associated with the susceptibility to several immune-related diseases. This study was conducted to identify the association of CCR6 and RNASET2 tag SNP with autoimmune thyroid diseases (AITDs) in the Chinese Han population. We enrolled 1061 patients with AITDs, including 701 patients with Graves' disease (GD) and 360 patients with Hashimoto's thyroiditis (HT), and 938 healthy individuals for a case-cont…
3
PID
Recognition of the well-known pleiotropism of autoimmune genes supports the concept of a shared pathogenesis across autoimmune diseases such as rheumatoid arthritis (RA) and systemic sclerosis (SSc). Studies have reproducibly demonstrated an association between susceptibility to RA and polymorphisms of the CCR6 gene, a surface marker for Th17 cells, and the causal variant was recently identified. The present study was thus undertaken to investigate whether CCR6 polymorphisms could also be associ…
4
PID
Polymorphisms of the CC chemokine receptor 6 (CCR6) and FGFR10P tagSNP (locus close to CCR6) at 6q27 have recently been reported to be associated with the susceptibility to several immune-related diseases. This study was designed to determine the association of CCR6 and FGFR10P (tag)SNPs with Vogt-Koyanagi-Harada (VKH) syndrome, an autoimmune disease directed against melanocytes, in two independent Chinese Han populations. A total of 601 VKH patients and 725 healthy controls from two Chinese Han…
5
PID
Extensive association analyses including genome-wide association studies (GWAS) and powerful metaanalysis studies have identified a long list of loci associated with rheumatoid arthritis (RA) in very large populations, but most of them established statistical associations of genetic markers and RA only at the DNA level, without supporting evidence of functional relevance. Our study serves as a trial to detect the functional mechanisms underlying associations for RA by searching publicly availabl…
6
PID
Polymorphisms of CC chemokine receptor 6 (CCR6) genes have recently been reported to be associated with the susceptibility to several immune-related diseases. This study was conducted to examine the association of CCR6 with Beh&#xe7;et's disease (BD) in two Chinese Han populations. A total of 473 patients with BD and 725 healthy controls from two Chinese Han populations were genotyped by the PCR-restriction fragment length polymorphism method. Hardy-Weinberg equilibrium was tested using the &#x3…
7
PID
Graft-versus-host disease (GVHD) and fungal infections are frequent complications after allogeneic hematopoietic stem cell transplantation (HSCT). Single nucleotide polymorphisms (SNPs) in genes of the immune system can influence the inflammatory cascade and T cell-driven alloimmune reactions after HSCT, and thus increasing the incidence of GVHD and infectious complications. Here, we investigated the effect of SNPs in IL-23R and CCR6 on posttransplantation outcome in 161 recipients of partially…
8
PID
Large-scale genetic association studies have identified &gt;20 rheumatoid arthritis (RA) risk alleles among individuals of European ancestry. The influence of these risk alleles has not been comprehensively studied in African Americans. We therefore sought to examine whether these validated RA risk alleles are associated with RA risk in an African American population. Twenty-seven candidate single-nucleotide polymorphisms (SNPs) were genotyped in 556 autoantibody-positive African Americans with…
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.

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Unused Studies0

No unused studies.