## 4 Discussion  
In this study, the thrombophilic variants were studied in rs6020 (G1691A), rs1799963 (G20210A) and rs1801133 (C677T) SNPs of the GG/CC, GA/CT and AA/TT genotypes. To maximize power to detect the accuracy of the heterozygous variants present in the thrombophilic variants, we opted to include Saudi women in this case-control study, which can be considered as one of the strengths of this study. We recruited 100 infertile women and 100 fertile women based on confirmation from gynecologists and the patients' history. Thromophilia itself is defined as a predisposition toward thrombosis, either hereditary or diagnosed postnatally [48; 58]. Thromophilia also includes rare inherited defects that lead to the enhancement of coagulation [21]. Mutations, variants or SNPs in thrombophilia may disrupt the bodies coagulation mechanism, resulting in an increased susceptibility to producing blood clots improperly. This may have serious consequences for human health, since aberrant blood clot development can lead to disorders such as deep vein thrombosis, pulmonary embolism, stroke and other thrombotic events. Furthermore, it may have an impact on the female reproductive system since FI is a human-effecting health system. Based on these factors, this study was designed to investigate the role of thrombophilic  
Figure 1: Dendogram analysis of the thrombophilic variants. Figure 2: Analysis of the graphical depletion model and its predicted risks in the thrombophilic variants. SNPs in Saudi infertile women. The current study results showed a negative association in the genotype and allele frequencies. Yates correction was applied towards the absence of AA genotypes in the G1691A and G20210A SNPs for conservative adjustments when dealing with a small sample size. The 100 FI cases and 100 controls recruited to this study can be considered a small sample, which is also one of the limitations of this study. For small sample sizes, Yates adjustment should be used with caution, since it may result in a loss of statistical power, making it more difficult to discover genuine relationships when they exist. In addition to this, logistic regression models and ANOVA analysis were employed. However, a positive association was found in the recessive models of the combined genotype frequencies among the thrombophilic SNPs (\(p\) = 0.0006). A moderate association was found in the GMDR model using gene-gene interaction, dendrograms and depletion models. The absence or disappearance of homozygous variants in a specific population-based case-control study could have several potential indications based on the context of the study, as well as other factors, such as a rare variant. In this case, the AA genotypes of both the G1691A and G20210A SNPs can be considered rare variants among the several human diseases in Saudi Arabia, especially as it was totally disappearing in the control population [59; 60; 61]. Other factors such as a low penetrance level, loss of functional variants, negative selection, genetic drift and considering the low sample size necessitate conducting further research. However, it is considered critical to evaluate these results in the context of the particular research issue and the variants' underlying biology. In certain circumstances, the lack of homozygous individuals may be anticipated and instructive, but in others, additional examination may be required to understand the consequences for the condition or trait for this study. Finally, if any of the control individuals develop homozygous variants in the Saudi population, then it can be considered as a disease-causing variant in the future within their own family, as well as in the Saudi community. Inherited thrombophilia variants/mutations are considered a leading cause of recurrent spontaneous miscarriage, infertility, RPL, implantation failure, issues during IVF and ovarian hyperstimulation syndrome.