Genetics Genetics Research
CHROMOSOME 6 INTERGENIC GENE VIEW INTERGENIC ?q23 ?q25 rs9257809 — ~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 rs9257809 A / G · INTERGENIC HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs9257809

Gene: INTERGENIC — Intergenic / Genome-wide Chr 6:29388554
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies10

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Total A 0.915586G 0.084414AA 0.840072AG/GA 0.151028GG 0.0089pop=461,146 ↬
African A 0.97325G 0.02675AA 0.947354AG/GA 0.051788GG 0.000858pop=51,286
African American A 0.97286G 0.02714AA 0.946565AG/GA 0.052587GG 0.000848pop=49,518
African Others A 0.9842G 0.0158AA 0.969457AG/GA 0.029412GG 0.001131pop=1,768
Asian A 0.99766G 0.00234AA 0.995327AG/GA 0.004673GG 0pop=10,272
European A 0.900398G 0.099602AA 0.811718AG/GA 0.17736GG 0.010922pop=362,382
Latin American 1 A 0.9627G 0.0373AA 0.92781AG/GA 0.069792GG 0.002397pop=7,508
Latin American 2 A 0.96981G 0.03019AA 0.940938AG/GA 0.057752GG 0.00131pop=16,796
Other A 0.94397G 0.05603AA 0.893276AG/GA 0.101379GG 0.005345pop=11,600
Other Asian A 0.9882G 0.0118AA 0.976355AG/GA 0.023645GG 0pop=2,030

Studies3

Unread Studies3 ▼
1

Polymorphisms of the FOXF1 and MHC locus genes in individuals undergoing esophageal acid reflux assessments.

Study ↗ PDF ↗
PID
Gastroesophageal reflux disease (GERD) may lead to Barrett's esophagus (BE). Previously, a large genome-wide association study found two germline markers to be associated with BE, FOXF1 rs9936833 (C allele) and MHC rs9257809 (A allele). This study evaluated whether these two polymorphisms are associated with gastroesphageal acid reflux as measured by 24-hour pH testing. Patients with acid reflux symptoms referred for esophageal manometry and 24-hour pH monitoring at University Health Network (To…

2017 · Lam C, Liu WF, Bel RD et al.

2

Barrett associated MHC and FOXF1 variants also increase esophageal carcinoma risk.

Study ↗ PDF ↗
PID
Barrett's esophagus, with gastroesophageal reflux disease and obesity as risk factors, predisposes to esophageal adenocarcinoma (EAC). Recently a British genome wide association study identified two Barrett's esophagus susceptibility loci mapping within the major histocompatibility complex (MHC; rs9257809) and closely to the Forkhead-F1 (FOXF1; rs9936833) coding gene. An interesting issue is whether polymorphisms associated with Barrett's esophagus, are also implicated in esophageal carcinoma (E…

2013 · Dura P, van Veen EM, Salomon J et al.

3

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.

Study ↗ PDF ↗
PID
Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk…

2012 · Su Z, Gay LJ, Strange A 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.