Genetics Genetics Research
CHROMOSOME 21 RUNX1 21q22.12 GENE VIEW RUNX1 · 21q22.12 21q21 21q23 rs2014300 — ~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 rs2014300 A / C · RUNX1 · 21q22.12 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs2014300

Gene: RUNX1 — RUNX Family Transcription Factor 1 Chr 21:34985564 21q22.12 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.174092G 0.825908AA 0.039525AG/GA 0.269134GG 0.691341pop=562,938 ↬
African A 0.46395G 0.53605AA 0.216493AG/GA 0.494919GG 0.288588pop=47,826
African American A 0.46188G 0.53812AA 0.213886AG/GA 0.495984GG 0.290131pop=46,062
African Others A 0.5181G 0.4819AA 0.28458AG/GA 0.46712GG 0.248299pop=1,764
Asian A 0.11283G 0.88717AA 0.015548AG/GA 0.194566GG 0.789887pop=13,764
East Asian A 0.10466G 0.89534AA 0.012312AG/GA 0.184686GG 0.803001pop=10,396
European A 0.141466G 0.858534AA 0.020273AG/GA 0.242386GG 0.737341pop=456,478
Latin American 1 A 0.2647G 0.7353AA 0.072139AG/GA 0.385217GG 0.542644pop=5,628
Latin American 2 A 0.28122G 0.71878AA 0.08238AG/GA 0.397679GG 0.519941pop=12,236
Other A 0.17926G 0.82074AA 0.038478AG/GA 0.281556GG 0.679967pop=23,910
Other Asian A 0.1381G 0.8619AA 0.025534AG/GA 0.225059GG 0.749406pop=3,368
South Asian A 0.1512G 0.8488AA 0.030362AG/GA 0.241602GG 0.728036pop=3,096

Studies4

Unread Studies4 ▼
1

An Association and Meta-Analysis of Esophageal Squamous Cell Carcinoma Risk Associated with PLCE1 rs2274223, C20orf54 rs13042395 and RUNX1 rs2014300 Polymorphisms.

Study ↗ PDF ↗
PID
One of the highest risk of esophageal squamous cell carcinoma (ESCC) in the world has been reported in Iran, which is located in the Asian esophageal cancer belt. ESCC constitutes 90% of the esophageal cancer cases in Iran. Genome wide association studies (GWASs) in Chinese have identified a number of candidate variants, of which PLCE1rs2274223, C20orf54rs13042395 and RUNX1rs2014300 are studied in high risk populations including Chinese, Caucasians and Africans. However, results are inconsistent…

2020 · Nariman-Saleh-Fam Z, Saadatian Z, Nariman-Saleh-Fam L et al.

2

Influence of TS (rs34743033) and RUNX1 (rs2014300) gene polymorphisms on survival outcomes of fluorouracil-based chemotherapy in Chinese advanced gastric cancer patients.

Study ↗ PDF ↗
PID
This study aimed to explore the clinical correlation of single-nucleotide polymorphisms of thymidylate synthase (TS) and runt-related transcription factor 1 (RUNX1) in patients with postoperative stage II and III gastric cancer (GC). Samples were obtained from 661 patients with postoperative stage II and III GC. TS (rs34743033) and RUNX1 (rs2014300) were genotyped in 261 patients who received postoperative basic platinum and fluorouracil chemotherapy regimens and 400 patients who did not accept…

2018 · Han R, Wei J, Zhang H et al.

3

Genetic variants at 10q23 are associated with risk of head and neck cancer in a Chinese population.

Study ↗ PDF ↗
PID
A recent genome-wide association study (GWAS) focused on esophageal squamous cell carcinoma (ESCC) has identified several susceptible regions (5q11, 21q22, 6p21 10q23, and 12q24) in Chinese population. We hypothesized that single nucleotide polymorphisms (SNPs) identified in these regions for ESCC were also associated with the risk of head and neck cancer (HNC) which share similar risk factors with ESCC. To test this hypothesis, we genotyped three SNPs (rs2274223, rs2014300 and rs10484761) in a…

2013 · Yuan Z, Yuan H, Ma H et al.

4

Distinct genetic association at the PLCE1 locus with oesophageal squamous cell carcinoma in the South African population.

Study ↗ PDF ↗
PID
Oesophageal squamous cell carcinoma (OSCC) has a high prevalence in the Black and Mixed Ancestry populations of South Africa. Recently, three genome-wide association studies in Chinese populations identified five new OSCC susceptibility loci, including variants at PLCE1, C20orf54, PDE4D, RUNX1 and UNC5CL, but their contribution to disease risk in other populations is unknown. In this study, we report testing variants from these five loci for association with OSCC in the South African Black (407…

2012 · Bye H, Prescott NJ, Lewis CM 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.