CYP21A2
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | cytochrome P450, family 21, subfamily A, polypeptide 2 |
| EntrezGene | 1589 |
| PheGenI | 1589 |
| VariationViewer | 1589 |
| ClinVar | CYP21A2 |
| GeneCards | CYP21A2 |
| dbSNP | 1589 |
| Diseases | CYP21A2 |
| SADR | 1589 |
| HugeNav | 1589 |
| CYPANC | cyp21a2 |
| wikipedia | CYP21A2 |
| CYP21A2 | |
| gopubmed | CYP21A2 |
| EVS | CYP21A2 |
| HEFalMp | CYP21A2 |
| MyGene2 | CYP21A2 |
| 23andMe | CYP21A2 |
| Ensembl | ENSG00000231852 |
| OMIM | 201910 |
| # SNPs | 46 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| i5005425 | 32,008,262 | Congenital adrenal hyperplasia related | |
| i5005427 | 32,008,543 | Congenital adrenal hyperplasia related | |
| i5005430 | 32,008,696 | Congenital adrenal hyperplasia related | |
| i5005431 | 32,008,703 | Congenital adrenal hyperplasia related | |
| i5005432 | 32,008,648 | Congenital adrenal hyperplasia related | |
| i5005433 | 32,007,956 | Congenital adrenal hyperplasia related | |
| i5005434 | 32,008,452 | Congenital adrenal hyperplasia related | |
| i5005436 | 32,008,312 | Congenital adrenal hyperplasia related | |
| i5005437 | 32,006,387 | Congenital adrenal hyperplasia related | |
| rs1057519068 | 0 | 32,040,096 | |
| rs1057519069 | 0 | 32,039,178 | |
| rs111647200 | 0 | 32,039,807 | |
| rs12530380 | 3 | 32,039,810 | |
| rs151344502 | 0 | 32,039,807 | |
| rs151344503 | 5 | 32,040,766 | |
| rs151344504 | 5 | 32,040,926 | |
| rs151344505 | 5 | 32,040,179 | |
| rs151344506 | 5 | 32,040,675 | |
| rs201552310 | 5 | 32,040,140 | |
| rs202242769 | 0 | 32,040,723 | |
| rs267606756 | 0 | 32,040,186 | |
| rs267606757 | 5 | 32,039,162 | |
| rs387906510 | 5 | 32,039,133 | |
| rs397509367 | 5 | 32,041,097 | |
| rs397515394 | 0 | 32,038,449 | |
| rs397515532 | 0 | 32,040,189 | |
| rs606231200 | 0 | 32,040,187 | |
| rs6445 | 5 | 32,041,006 | |
| rs6467 | 3 | 32,039,081 | |
| rs6471 | 5 | 32,040,110 | |
| rs6472 | 0 | 32,040,072 | |
| rs6473 | 0 | 32,041,127 | |
| rs6474 | 0 | 32,039,109 | |
| rs6475 | 5 | 32,039,426 | |
| rs6476 | 5 | 32,039,816 | |
| rs6941704 | 0 | 32,042,125 | |
| rs72552754 | 5 | 32,040,485 | |
| rs72552756 | 5 | 32,040,692 | |
| rs72552757 | 5 | 32,040,871 | |
| rs72552758 | 5 | 32,040,919 | |
| rs7755898 | 5 | 32,040,421 | Q318X allele of the 21-hydroxylase gene. T is the risk allele. This represents a null allele (no function). |
| rs7769409 | 5 | 32,040,535 | |
| rs786204728 | 0 | 32,039,807 | |
| rs886038207 | 0 | 32,038,580 | |
| rs9378251 | 5 | 32,038,514 | |
| rs9378252 | 1 | 32,038,610 |
CYP21A2 codes for 21-hydroxylase, an enzyme that is part of producing cortisol and aldosterone [1].
There are more than 100 mutations in the CYP21A2 gene that cause 21-hydroxylase deficiency, which can cause congenital adrenal hyperplasia.
