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1 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 | rs372091 | “In contrast, the GWAS analysis showed novel genome-wide associations (p < 5 × 10-8) with seven signals; five of them were located on Chr 11 (rs35390334, rs331532, rs317777, rs147062602, and rs372091), one SNP on Chr 20 (rs139341092), and another on Chr 9 (rs76076035).” | 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 |