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2 records shown · first 60Impact of Genetic Variations on Thromboembolic Risk in Saudis with Sickle Cell Disease.
PMID 37895268 | PMCID PMC10606407 | DOI 10.3390/genes14101919 · Genes · 2023 · 31 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs5006884 | “The previously reported association between rs5006884-A in OR51B5 and fetal hemoglobin (HbF) levels was confirmed in our study, which showed significantly lower levels of HbF (p = 0.002) and less allele frequency (p = 0.003) in the TEE cases than in the controls.” | 0.90 | hgvs_regex_v1 |
| gene | MTHFR | “A number of candidate polymorphisms in certain genes (e.g., FVL, PRT, and MTHFR) were previously reported as risk factors for TEEs in different clinical conditions.” | 0.98 | hgnc_dict_v1 |
| gene | OR51B5 | “Seven of the identified variants are located in olfactory receptor family 51 genes (OR51B5, OR51V1, OR51A1P, and OR51E2), and five variants were related to family 52 genes (OR52A5, OR52K1, OR52K2, and OR52T1P).” | 0.98 | hgnc_dict_v1 |
| gene | OR51V1 | “Seven of the identified variants are located in olfactory receptor family 51 genes (OR51B5, OR51V1, OR51A1P, and OR51E2), and five variants were related to family 52 genes (OR52A5, OR52K1, OR52K2, and OR52T1P).” | 0.98 | hgnc_dict_v1 |
Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA2 in β-thalassaemia carriers.
PMID 34336034 | PMCID PMC8314410 | DOI 10.5114/aoms.2019.86705 · Archives of medical science : AMS · 2021 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs5006884 | “Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA2 in β-thalassaemia carriers.” | 0.90 | hgvs_regex_v1 |
| gene | KLF1 | “The HbA2 levels are regulated by the presence of HPFH, δ-thalassaemia, HbA1/2 gene triplication, and variants of KLF1, β-globin gene, and HbF regulating QTLs.” | 0.98 | hgnc_dict_v1 |
| gene | BCL11A | “MATERIAL AND METHODS: 14 Specific SNPs in BCL11A, HMIP, OR51B6, HBBP1, and HBG2 loci were genotyped in 164 Saudi β-thalassaemia carriers by TaqMan assay to validate their role as regulators of HbA2 levels.” | 0.98 | hgnc_dict_v1 |
| gene | OR51B6 | “MATERIAL AND METHODS: 14 Specific SNPs in BCL11A, HMIP, OR51B6, HBBP1, and HBG2 loci were genotyped in 164 Saudi β-thalassaemia carriers by TaqMan assay to validate their role as regulators of HbA2 levels.” | 0.98 | hgnc_dict_v1 |