Table 4.
The SNPs of SOX2-OT are associated with various diseases.
| SNP | Mapped gene | Context | Disease/abnormality | PubMed ID |
|---|---|---|---|---|
| rs13096176 | SOX2-OT | intron_variant | Schizophrenia | 31740837 [69] |
| rs4855019 | SOX2-OT | intron_variant | Schizophrenia | 31740837 [69] |
| rs9841616 | SOX2-OT | intron_variant | Schizophrenia | 31740837 [69] |
| rs35788479 | SOX2-OT | intron_variant | General risk tolerance | 30643258 [70] |
| rs114600294 | SOX2-OT | intron_variant | General risk tolerance | 30643258 [70] |
| rs833268 | SOX2-OT | intron_variant | Male-pattern baldness | 30573740 [71] |
| rs12632136 | SOX2-OT | intron_variant | Reaction time | 29844566 [72] |
| rs2216428 | SOX2-OT | intron_variant | General cognitive disorder | 29844566 [72] |
| rs1345417 | SOX2-OT | intron_variant | Excessive hairiness | 29895819 [73] |
| rs60733335 | SOX2-OT | intron_variant | Hair color | 30595370 [74] |
| rs2216427 | SOX2-OT | intron_variant | Insomnia | 30804565 [75] |
| rs12485391 | SOX2-OT | intron_variant | Smoking status | 30595370 [74] |
| rs2567646 | SOX2-OT | intron_variant | General cognitive disorder | 29844566 [72] |
| rs9841616 | SOX2-OT | intron_variant | Schizophrenia | 25056061 [72] |
| rs1345417 | SOX2-OT | intron_variant | Eyebrow thickness | 30248107 [76] |
| rs9841616 | SOX2-OT | intron_variant | Schizophrenia | 28991256 [77] |
| rs9859557 | SOX2-OT | intron_variant | Schizophrenia | 28991256 [77] |
| rs833270 | SOX2-OT | intron_variant | Balding type 1 | 30595370 [74] |
| rs77025239 | SOX2-OT | intron_variant | Educational attainment | 30595370 [74] |
| rs1805207 | SOX2-OT | intron_variant | Body mass index | 30595370 [74] |
| rs9841616 | SOX2-OT | intron_variant | Schizophrenia | 26198764 [78] |
| rs1805203 | SOX2-OT | intron_variant | Schizophrenia | 26198764 [78] |
| rs1878874 | SOX2-OT | intron_variant | Schizophrenia | 26198764 [78] |
| rs13086738 | SOX2-OT | intron_variant | Eating disorder in individuals with bipolar disorder | 26433762 [79] |
| rs4854912 | SOX2-OT | intron_variant | Bipolar disorder and eating disorder | 26433762 [79] |
| rs1345417 | SOX2-OT | intron_variant | Monobrow | 27182965 [80] |
| rs2718791 | SOX2-OT | intron_variant | Smoking initiation | 30643251 [81] |
| rs9859557 | SOX2-OT | intron_variant | Schizophrenia | 30285260 [82] |
| rs9859557 | SOX2-OT | intron_variant | Schizophrenia | 30285260 [82] |
| rs9841616 | SOX2-OT | intron_variant | Schizophrenia | 30285260 [82] |
| rs9841616 | SOX2-OT | intron_variant | Schizophrenia | 30285260 [82] |
| rs75380963 | SOX2-OT | exon_variant | Corneal astigmatism | 30306274 [83] |
| rs77025239 | SOX2-OT | intron_variant | Educational attainment | 30038396 [84] |
| rs2718791 | SOX2-OT | intron_variant | Educational attainment | 30038396 [84] |
| rs77025239 | SOX2-OT | intron_variant | Educational attainment | 30038396 [84] |
| rs9841382 | SOX2-OT | intron_variant | Self-reported risk-taking behavior | 30271922 [85] |
| rs9841382 | SOX2-OT | intron_variant | Self-reported risk-taking behavior | 30181555 [86] |
| rs9841382 | SOX2-OT | intron_variant | Self-reported risk-taking behavior | 30181555 [86] |
| rs4133078 | SOX2-OT | intron_variant | Height | 30595370 [74] |
| rs7631379 | SOX2-OT | intron_variant | Smoking initiation | 30643251 [81] |
| rs34308817 | SOX2-OT | intron_variant | Ankle injury | 28957384 [87] |
| rs6443750 | SOX2-OT | intron_variant | Body mass index | 30595370 [74] |
| rs6443750 | SOX2-OT | intron_variant | Body mass index | 30239722 [88] |
| rs186834402 | SOX2-OT | intron_variant | Interferon gamma levels | 27989323 [89] |
| rs10937060 | SOX2-OT | intron_variant | Night sleep phenotypes | 27126917 [90] |
| rs9839776 | SOX2-OT | intron_variant | Anorexia nervosa | 24514567 [8] |
| rs4510419 | SOX2-OT | intron_variant | Smoking initiation | 30643251 [81] |
| rs9839776 | SOX2-OT | intron_variant | Breast cancer | 28240100 [31] |
| rs9839776 | SOX2-OT | intron_variant | Recurrent miscarriage | 31827385 [48] |
Note: SNPs: single-nucleotide polymorphisms; OR: odds ratio.