HMSD
histocompatibility minor serpin domain containing
Summary
This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2511702139 | 18:61,620,710 | G/C | — | uncertain significance |
| rs9945924 | 18:61,620,766 | G/C | — | — |
| rs1169535228 | 18:61,621,676 | G/A | — | uncertain significance |
| rs759290376 | 18:61,621,685 | A/T | — | uncertain significance |
| rs1475983372 | 18:61,621,691 | G/T | — | uncertain significance |
| rs375545599 | 18:61,621,700 | C/T | — | uncertain significance |
| rs200798007 | 18:61,621,711 | G/A | — | uncertain significance |
| rs1184803176 | 18:61,621,727 | A/T | — | uncertain significance |
| rs2511705795 | 18:61,627,432 | T/C | — | uncertain significance |
| rs755306977 | 18:61,627,477 | G/A | — | likely benign |
| rs1000847532 | 18:61,627,552 | G/T | — | uncertain significance |
| rs2009989 | 18:61,633,244 | T/A | — | — |
| rs113723806 | 18:61,633,515 | A/T | regulatory region variant | — |
| rs116967165 | 18:61,633,785 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.