FOXP3, forkhead box P3, 50943

N. diseases: 688; N. variants: 27
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0742343
Disease:
Acute Chest Syndrome
0.020 GeneticVariation BEFREE However, rs3761548 C allele was more prevalent in controls compared with patients with ACS (P = 0.024). 26931655 2016
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0742343
Disease:
Acute Chest Syndrome
0.020 GeneticVariation BEFREE Our results showed that single nucleotide polymorphism rs3761548 had association with ACS in Chinese Han population. 23299803 2013
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0742343
Disease:
Acute Chest Syndrome
0.020 GeneticVariation BEFREE In the present study, we analysed the expression of FOXP3 as well as the association between two variants in this gene (rs3761548A/C and rs5902434del/ATT) and occurrence of ACS in Iranian patients. 26931655 2016
dbSNP: rs2232365
rs2232365
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0856825
Disease:
Acute GVH disease
0.010 GeneticVariation BEFREE rs3761549, rs5902434, and rs2232365 are associated with an increased risk of acute GVHD and decreased risk of post-HSCT infection. 30027704 2018
dbSNP: rs3761549
rs3761549
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0856825
Disease:
Acute GVH disease
0.010 GeneticVariation BEFREE Multivariate analysis showed that the TT genotype of rs3761549 was an independent risk factor for occurrence of acute GVHD (P=0.032, hazard ratio=5.6). 30027704 2018
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C2607914
Disease:
Allergic rhinitis (disorder)
0.030 GeneticVariation BEFREE The diplotype rs3761548-rs4824747 in FOXP3 gene with "AG" was associated with risk of AR (P=0.031, OR=1.755). 22836044 2012
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C2607914
Disease:
Allergic rhinitis (disorder)
0.030 GeneticVariation BEFREE In summary, no significant association between rs3761548, rs2232365 polymorphisms of the FOXP3 gene, and an increased susceptibility to allergic rhinitis was identified based on the published data; however, this conclusion should be confirmed by more studies with increased sample sizes. 28741671 2017
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C2607914
Disease:
Allergic rhinitis (disorder)
0.030 GeneticVariation BEFREE The results demonstrated that females homozygous for the rare FOXP3 rs3761548 allele (A/A) are protected against AR; otherwise, females who are either wild types (C/C) or heterozygote carriers (C/A) of the rare allele are more susceptible to AR (OR [95%CI] = 2.089 [1,095; 3.988]). 21763379 2011
dbSNP: rs2232365
rs2232365
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C2607914
Disease:
Allergic rhinitis (disorder)
0.010 GeneticVariation BEFREE In summary, no significant association between rs3761548, rs2232365 polymorphisms of the FOXP3 gene, and an increased susceptibility to allergic rhinitis was identified based on the published data; however, this conclusion should be confirmed by more studies with increased sample sizes. 28741671 2017
dbSNP: rs1057520529
rs1057520529
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0002871
Disease:
Anemia
T 0.700 CausalMutation CLINVAR
dbSNP: rs2232365
rs2232365
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE In addition, rs2232365 GG genotype was associated with AS</span>D in dominant inheritance model. 27751813 2017
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE Haplotype analysis revealed no significant association of any estimated block of rs2232365/rs3761548 with ASD. 27751813 2017
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0004364
Disease:
Autoimmune Diseases
0.020 GeneticVariation BEFREE FoxP3 rs3761548 polymorphism predicts autoimmune disease susceptibility: a meta-analysis. 23993983 2013
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0004364
Disease:
Autoimmune Diseases
0.020 GeneticVariation BEFREE The rs3761548 polymorphism (-3279 C>A) of FOXP3 gene is associated with several autoimmune disorders. 23498308 2013
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C3840565
Disease:
Autoimmune thyroid disease (AITD)
0.010 GeneticVariation BEFREE There was no allelic association of rs3761548 and rs3761549 polymorphisms with AITD susceptibility, albeit a significant difference in genotype distribution with respect to rs3761549. 30771152 2019
dbSNP: rs3761549
rs3761549
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C3840565
Disease:
Autoimmune thyroid disease (AITD)
0.010 GeneticVariation BEFREE There was no allelic association of rs3761548 and rs3761549 polymorphisms with AITD susceptibility, albeit a significant difference in genotype distribution with respect to rs3761549. 30771152 2019
dbSNP: rs1057520529
rs1057520529
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C1855710
Disease:
Bone marrow hypocellularity
T 0.700 CausalMutation CLINVAR
dbSNP: rs3761549
rs3761549
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0006118
Disease:
Brain Neoplasms
0.010 GeneticVariation BEFREE The allele C of rs3761549 is lower in the brain tumour cases when compared with the controls (364 vs 392, P = 0.005). 30802341 2019
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE Foxp3 promoter polymorphism (rs3761548) in breast cancer progression: a study from India. 24338714 2014
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE While no significant results were observed in overall and breast cancer groups for rs3761548 (A/C) polymorphisms, the pooled data showed an elevated risk of cancer in variant AA genotypes and A allele for Chinese population (AA vs. AC+CC: OR = 1.61, 95% CI = 1.09, 2.39; AA vs. CC: OR = 1.74, 95% CI = 1.05, 2.89; A vs. C: OR = 1.34, 95% CI = 1.00, 1.78). 30782783 2019
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE In this context, the present study aimed to evaluate the g.10403A>G (rs2232365) polymorphisms and g.8048A>C (rs3761548), in aggressive breast cancer (BC) subtypes, including, Luminal B HER2+ (LB), HER2-enriched (HER2+), and triple-negative (TN). 28713192 2017
dbSNP: rs3761548
rs3761548
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE Our study suggests that <i>FOXP3</i> polymorphism rs3761548 is associated with BC susceptibility in the Chinese and may be involved in tumor progression. 29731666 2018
dbSNP: rs2232365
rs2232365
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE In this context, the present study aimed to evaluate the g.10403A>G (rs2232365) polymorphisms and g.8048A>C (rs3761548), in aggressive breast cancer (BC) subtypes, including, Luminal B HER2+ (LB), HER2-enriched (HER2+), and triple-negative (TN). 28713192 2017
dbSNP: rs3761549
rs3761549
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We observed that rs3761548 was associated with a higher BC risk in heterozygous, dominant, overdominant, and allele genetic models (CA vs CC: OR =1.32, <i>P</i>=0.031; CA/AA vs CC: OR =1.32, <i>P</i>=0.023; CA vs CC/AA: OR =1.29, <i>P</i>=0.042; A vs C: OR =1.26, <i>P</i>=0.029), whereas no significant association was found between rs3761549 and BC risk. 29731666 2018
dbSNP: rs2232365
rs2232365
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C2316810
Disease:
Chronic kidney disease stage 5
0.010 GeneticVariation BEFREE Interestingly, multifactor dimension reduction analysis suggested an increased risks of nearly 6-folds for ESRD and 23-folds for ARE cases under the six factors model which consists of tag-SNPs of FOXP3 (rs2232365, rs3761548, rs5902434 and rs2294021) and NF-kB1 (rs28362491 and rs696). 26794449 2016