HSD17B13
hydroxysteroid 17-beta dehydrogenase 13
Summary
Predicted to enable oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor and steroid dehydrogenase activity. Acts upstream of or within positive regulation of lipid biosynthetic process. Located in lipid droplet. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs28456144 | 4:88,224,497 | G/A | downstream gene variant | — |
| rs13106540 | 4:88,225,318 | G/T | upstream gene variant | — |
| rs150294796 | 4:88,226,399 | C/T | — | uncertain significance |
| rs755551017 | 4:88,226,426 | G/A | — | uncertain significance |
| rs114287473 | 4:88,226,437 | G/A | — | benign |
| rs10433937 | 4:88,230,100 | T/G | intron variant | — |
| rs111297471 | 4:88,230,501 | A/C | intron variant | — |
| rs10433879 | 4:88,231,140 | G/C | intron variant | — |
| rs1734500710 | 4:88,231,399 | G/T | — | likely benign |
| rs1303947581 | 4:88,231,416 | T/C | — | uncertain significance |
| rs76926692 | 4:88,231,428 | G/T | — | benign |
| rs62305723 | 4:88,231,429 | G/A | missense variant | benign |
| rs111403391 | 4:88,231,491 | G/A | — | benign |
| rs1048748638 | 4:88,234,987 | T/C | — | uncertain significance |
| rs1230858761 | 4:88,235,077 | C/T | — | uncertain significance |
| rs2476006457 | 4:88,236,654 | A/T | — | uncertain significance |
| rs753811718 | 4:88,236,670 | C/T | — | uncertain significance |
| rs138932958 | 4:88,236,701 | G/A | — | benign |
| rs201689424 | 4:88,236,759 | A/C | — | benign |
| rs1340545567 | 4:88,238,333 | C/T | — | uncertain significance |
| rs570809646 | 4:88,239,488 | A/G | — | uncertain significance |
| rs200528299 | 4:88,243,816 | G/C | — | uncertain significance |
| rs1284107982 | 4:88,243,867 | C/T | — | uncertain significance |
| rs2476019357 | 4:88,243,924 | T/C | — | uncertain significance |
| rs200847277 | 4:88,243,948 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.