HSD17B12
hydroxysteroid 17-beta dehydrogenase 12
Summary
This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11820132 | 11:43,603,300 | T/A | — | — |
| rs2679053 | 11:43,605,304 | A/T | — | — |
| rs2625390 | 11:43,610,732 | C/T | intron variant | — |
| rs139675748 | 11:43,633,208 | C/T | intron variant | — |
| rs4755725 | 11:43,637,975 | C/T | — | — |
| rs4237643 | 11:43,648,368 | T/G | intron variant | — |
| rs77677460 | 11:43,673,370 | C/G | intron variant | — |
| rs60572790 | 11:43,692,383 | T/C | intron variant | — |
| rs35060985 | 11:43,693,110 | G/A | intron variant | — |
| rs200659555 | 11:43,702,394 | C/T | — | uncertain significance |
| rs764637752 | 11:43,702,490 | G/A | — | uncertain significance |
| rs201719014 | 11:43,702,517 | C/T | — | uncertain significance |
| rs12278181 | 11:43,704,110 | A/C | — | — |
| rs12277307 | 11:43,721,672 | C/A | regulatory region variant | — |
| rs7932905 | 11:43,727,577 | G/C | — | — |
| rs11037575 | 11:43,728,330 | T/A | — | — |
| rs7115856 | 11:43,769,287 | A/C | regulatory region variant | — |
| rs34804222 | 11:43,771,084 | A/G | intron variant | — |
| rs149132795 | 11:43,772,505 | G/A | — | uncertain significance |
| rs2495143999 | 11:43,775,656 | G/T | — | uncertain significance |
| rs771898347 | 11:43,775,670 | A/G | — | uncertain significance |
| rs7928134 | 11:43,786,313 | A/C | — | — |
| rs10838163 | 11:43,797,428 | A/C | — | — |
| rs4592416 | 11:43,800,474 | A/T | — | — |
| rs6485462 | 11:43,816,200 | C/T | intron variant | — |
| rs773145424 | 11:43,819,913 | T/G | — | uncertain significance |
| rs374709974 | 11:43,819,914 | G/T | — | uncertain significance |
| rs569663277 | 11:43,819,948 | G/A | — | uncertain significance |
| rs757699057 | 11:43,819,954 | C/T | — | uncertain significance |
| rs780932244 | 11:43,819,972 | T/C | — | uncertain significance |
| rs2539123149 | 11:43,837,050 | A/G | — | uncertain significance |
| rs9651613 | 11:43,849,884 | A/T | — | — |
| rs9651614 | 11:43,849,913 | C/T | downstream gene variant | — |
| rs7931097 | 11:43,857,418 | A/G | upstream gene variant | — |
| rs200454058 | 11:43,859,914 | C/G | — | uncertain significance |
| rs530130246 | 11:43,861,571 | A/T | — | uncertain significance |
| rs758660878 | 11:43,861,603 | G/A | — | likely benign |
| rs764792567 | 11:43,876,335 | C/T | — | uncertain significance |
| rs202075210 | 11:43,876,341 | C/T | — | uncertain significance |
| rs373675346 | 11:43,876,704 | T/A | — | uncertain significance |
| rs779763892 | 11:43,876,752 | A/C | — | uncertain significance |
| rs764378726 | 11:43,876,791 | A/T | — | uncertain significance |
| rs35251247 | 11:43,878,459 | G/A | downstream gene variant | — |
| rs57635800 | 11:43,878,485 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.