Table 2.
Phenotypic associations within 10kb of the CODIS loci from ClinVar and the GWAS catalog
| Marker | ClinVar variants | ClinVar traits | GWAS hits | GWAS commonly studied traits |
|---|---|---|---|---|
| D1S1656 | 0 | 0 | ||
| TPOX | 12 | Deficiency of iodide peroxidase; Neurodevelopmental disorder | 2 | |
| D2S441 | 0 | 1 | ||
| D2S1338 | 0 | 1 | Height | |
| D3S1358 | 0 | 0 | ||
| FGA | 22 | Hepatocellular carcinoma; Congenital afibrinogenemia; Familial visceral amyloidosis,Ostertag type; Hypofibrinogenemia; Familial hypodysfibrinogenemia; Familial dysfibrinogenemia; Dysfibrinogenemia; Abnormal bleeding | 4 | Fibrinogen; Height; Ischemic stroke; Stroke; Venous thromboembolism |
| D5S818 | 0 | 3 | Amyotrophic lateral sclerosis; Total body bone mineral density | |
| CSF1PO | 2 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | 7 | Aspartate aminotransferase levels; Monocyte count; Serum total protein level |
| D7S820 | 0 | 1 | Obesity-related traits | |
| D8S1179 | 0 | 3 | Platelet count | |
| D10S1248 | 0 | 0 | ||
| TH01 | 25 | Permanent neonatal diabetes mellitus; not specified; Autosomal recessive DOPA responsive dystonia; Inborn genetic diseases; Dystonic disorder | 10 | Cystatin C levels; Height; Hematocrit; Hemoglobin; Hemoglobin concentration; Type 1 diabetes; Type 2 diabetes |
| vWA | 17 | von Willebrand disorder; von Willebrand disease type 3; Abnormality of coagulation; von Willebrand disease type 1 | 1 | |
| D12S391 | 0 | 1 | ||
| D13S317 | 0 | 2 | Hippocampal volume | |
| D16S539 | 0 | 6 | Appendicular lean mass; Optic cup area; Response to statin therapy | |
| D18S51 | 0 | 2 | Heel bone mineral density | |
| D19S433 | 0 | 1 | ||
| D21S11 | 0 | 0 | ||
| D22S1045 | 4 | Ichthyosis; Immunodeficiency 63 with lymphoproliferation and autoimmunity | 4 | Asthma; Eosinophil counts; Rheumatoid arthritis; Tuberculosis |