Table I. Selected polymorphic variants in the vitamin D receptor (VDR) and 25-hydroxyvitamin D 24-hydroxylase (CYP24A1) genes.
Gene/SNP | Description | Chromosome | Base position* | Minor allele frequency | Function |
---|---|---|---|---|---|
CYP24A1 | |||||
rs2248137 | IVS1-105C>G | 20 | 52789743 | 0.37 | Non-coding |
rs34043203 | IVS2-341G>A | 20 | 52788550 | 0.11 | Non-coding |
rs2296237 | IVS8+204T>C | 20 | 52775292 | 0.49 | Non-coding |
rs1977297 | IVS9+146G>A | 20 | 52774479 | 0.07 | Non-coding |
rs1570669 | IVS9+198T>C | 20 | 52774427 | 0.23 | Non-coding |
rs2762934 | Ex12+40T>C | 20 | 52771261 | 0.29 | 3′ untranslated region |
| |||||
VDR | |||||
rs1544410 (Bsm1) | IVS9+283C>T | 12 | 48239835 | 0.48 | Non-coding |
rs2228570 (Fok1) | Ex2+4T>C | 12 | 48272895 | 0.17 | Missense |
Per genome build 37.2