Genetics Genetics Research
CHROMOSOME 6 LTA 6p21.33 GENE VIEW LTA · 6p21.33 6p22 6p20 rs2229092 — ~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 rs2229092 Histidine 51 → Proline A / C · LTA · 6p21.33 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

rs2229092

Histidine 51 → Proline Gene: LTA — Lymphotoxin Alpha Chr 6:31572980 6p21.33 2KB Upstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.945399C 0.054601AA 0.894232AC/CA 0.102334CC 0.003434pop=574,860 ↬
African A 0.9887C 0.0113AA 0.977621AC/CA 0.02216CC 0.000219pop=54,874
African American A 0.98833C 0.01167AA 0.976889AC/CA 0.022884CC 0.000227pop=52,962
African Others A 0.999C 0.001AA 0.997908AC/CA 0.002092CC 0pop=1,912
Asian A 0.98384C 0.01616AA 0.968069AC/CA 0.031549CC 0.000382pop=10,460
East Asian A 0.9849C 0.0151AA 0.9699AC/CA 0.0301CC 0pop=8,372
European A 0.938123C 0.061877AA 0.880284AC/CA 0.115678CC 0.004038pop=459,170
Latin American 1 A 0.9663C 0.0337AA 0.934497AC/CA 0.06369CC 0.001813pop=8,824
Latin American 2 A 0.96568C 0.03432AA 0.932437AC/CA 0.066481CC 0.001082pop=12,936
Other A 0.95114C 0.04886AA 0.904783AC/CA 0.092723CC 0.002494pop=22,454
Other Asian A 0.9794C 0.0206AA 0.960728AC/CA 0.037356CC 0.001916pop=2,088
South Asian A 0.9432C 0.0568AA 0.889287AC/CA 0.107782CC 0.002931pop=6,142

Studies3

Unread Studies3 ▼
1

Exome-wide association study reveals 7 functional variants associated with ex-vivo drug response in acute myeloid leukemia patients.

Study ↗ PDF ↗
PID
Acute myeloid leukemia (AML) is an aggressive blood cancer characterized by poor survival outcomes. Further, due to the extreme molecular heterogeneity of the disease, drug treatment response varies from patient to patient. The variability of drug response can cause unnecessary treatment in more than half of the patients with no or partial therapy responses leading to severe side effects, monetary as well as time loss. Understanding the genetic risk factors underlying the drug response in AML ca…

2025 · Giri AK, Lin J, Kyriakidis K et al.

2

Whole-exome and whole-genome sequencing of 1064 individuals with type 1 diabetes reveals novel genes for diabetic kidney disease.

Study ↗ PDF ↗
PID
Diabetic kidney disease (DKD) is a severe diabetic complication that affects one third of individuals with type 1 diabetes. Although several genes and common variants have been shown to be associated with DKD, much of the predicted inheritance remains unexplained. Here, we performed next-generation sequencing to assess whether low-frequency variants, extending to a minor allele frequency (MAF) &#x2264;10% (single or aggregated) contribute to the missing heritability in DKD. We performed whole-ex…

2024 · Haukka JK, Antikainen AA, Valo E et al.

3

Association of LTA gene haploblock with periodontal disease in Italian adults.

Study ↗ PDF ↗
PID
Periodontitis is a common oral disease caused by host inflammatory response towards bacteria biofilm. The chronic activation of immune response leads to destruction of teeth supporting tissue, bone loss and tooth detachment. Different factors could be involved in the development and severity of the disease; among them the host genetic background should be considered. In our study, we analysed haploblocks in a genomic region within major histocompatibility complex (MHC) locus aimed at disclosing…

2019 · Zupin L, Moura Rodrigues R, Navarra CO 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.