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Impact 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
TypeEntitySource evidenceConfidenceExtractor
variantrs1799963“The allele frequency of rs6025 in FVL and rs1799963 in PRT in our cohort was extremely low (<0.01); thus, both variants were excluded from the analysis as no meaningful comparison was possible.”0.90hgvs_regex_v1
geneMTHFR“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.”0.98hgnc_dict_v1
geneOR51B5“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).”0.98hgnc_dict_v1
geneOR51V1“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).”0.98hgnc_dict_v1