Table 6.
List of genes within SNP enriched genomic regions in the top 100 kb window.
| Gene | CHR | Function | Species | Reference |
|---|---|---|---|---|
| Afrikaner | ||||
| MOV10 | 3 | Gene silencing by miRNA | Human | Goodier et al., 2012 |
| MPV17 | 11 | Abnormal coat/hair pigmentation, thin skin, decreased body weight, kidney failure, anemia, hypertension, increased heart rate | Mouse | Weiher et al., 1990; Viscomi et al., 2009 |
| UCN | 11 | Increased anxiety, feeding behavior, heart failure, decreased drinking behavior, parkinsonian disorders | Mouse, rat | Vetter et al., 2002 |
| TRIM54 | 11 | Premature death, abnormal heart morphology | Mouse | Hwang et al., 2010 |
| DNAJC5G | 11 | Cardiovascular system phenotype, decreased anxiety-related response | Mouse | Rovelet-Lecrux et al., 2012 |
| WNT4 | 2 | Serkal syndrome, female sex determination, kidney failure, male sex differentiation | Mammals, mouse | Vainio et al., 1999; Brisken et al., 2000 |
| CDC42 | 2 | Negative regulation of gene expression, hair follicle placode formation, spinal cord injuries, bipolar disorder, epilepsy arthritis | Mouse, rat | Erschbamer et al., 2005; Park et al., 2009 |
| MLANA | 8 | Diluted coat color, hair morphology | Mouse | Steingrimsson et al., 2006 |
| KIAA1549 | 4 | Decreased total body fat amount, pilocytic astrocytoma (brain tumor) | Human, mouse | Hughes, 1998; Antonelli et al., 2015 |
| HECTD3 | 3 | Decreased lean body mass, length, increased total body fat amount | Mouse | Zhang et al., 2009 |
| Drakensberger | ||||
| YTHDC2 | 10 | Prostatic neoplasms | Rat | Arambula et al., 2016 |
| DCLRE1B | 3 | Decreased embryo size, neonatal lethality, cell cycle checkpoint | Mouse, human | Liu et al., 2009; Dronkert et al., 2000 |
| AP4B1 | 3 | Spastic paraplegia, autosomal recessive | Mouse, human | Tuysuz et al., 2014 |
| PTPN22 | 3 | Autoimmune diseases, enlarged spleen, diabetes mellitus, insulin-dependent | Human, mouse, rat | Bottini et al., 2006; Michou et al., 2007 |
| ZC3HAV1 | 4 | Suppression by virus of host molecular function, endosome to lysosome transport | Mouse | Lee et al., 2009 |
| PSMB11 | 10 | Increased T-cell proliferation, abnormal self-tolerance | Mouse | Anderson and Takahama, 2012 |
| AJUBA | 10 | Gene silencing by miRNA, wound healing, spreading of epidermal cells, heart contraction, decreased rate, abnormal cell migration | Human, zebrafish, mouse | Bergantinos et al., 2010; Wilkinson et al., 2014 |
| SLC7A8 | 10 | Decreased susceptibility to pharmacologically induced seizures | Mouse | Dai et al., 2007 |
| IFT74 | 8 | Abnormal lung lobe morphology, notch signaling involved in heart development, cilium assembly | Human, mouse | Kwong et al., 2007; Bhogaraju et al., 2013 |
| SUPT7L | 11 | Abnormal hair texture, decreased body weight, embryonic lethality | Mouse | Bardot et al., 2016 |
| Nguni | ||||
| RAB33B | 17 | Skeletal system morphogenesis | Human | Bonafe et al., 2015 |
| SYT10 | 5 | Shortened circadian period (sleep disorder), sensory perception of smell | Mouse | Anda et al., 2016 |
| STT3B | 22 | Congenital disorder of glycosylation | Human | Scott et al., 2014 |
| CEACAM16 | 18 | Deafness, autosomal dominant 4b | Human, mouse | Zheng et al., 2011; Lukashkin et al., 2012 |
| SRGAP2 | 16 | Dendritic spine development | Mouse | Charrier et al., 2012 |
| TMEM98 | 19 | Nanophthalmia, hemorrhage | Human, mouse | Liao et al., 2016 |
| CCL17 | 18 | Staphylococcal pneumonia, bronchiolitis obliterans | Mouse | Montgomery and Daum, 2009 |
| TXN | 8 | Fatty liver, myocarditis, diabetes mellitus | Rat | Chung et al., 2011 |
| COG5 | 4 | Congenital disorder | Human | Wu et al., 2004 |
| AIRE | 1 | Reduced fertility, thyroid, and eye inflammation | Mouse | Schaller et al., 2008 |