SMPDL3B
sphingomyelin phosphodiesterase acid like 3B
Summary
Enables phosphoric diester hydrolase activity. Predicted to be involved in membrane lipid catabolic process; negative regulation of inflammatory response; and negative regulation of toll-like receptor signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760755598 | 1:28,261,707 | G/A | — | uncertain significance |
| rs2090296576 | 1:28,261,744 | G/C | — | uncertain significance |
| rs2090296598 | 1:28,261,746 | G/T | — | uncertain significance |
| rs4409675 | 1:28,262,409 | A/G | — | — |
| rs189315023 | 1:28,266,142 | C/A | intron variant | — |
| rs544282310 | 1:28,271,760 | G/A | — | likely benign |
| rs141035438 | 1:28,271,781 | G/A | — | likely benign |
| rs2522277494 | 1:28,271,817 | C/T | — | uncertain significance |
| rs377660078 | 1:28,271,892 | A/G | — | uncertain significance |
| rs145333269 | 1:28,275,598 | G/C | — | uncertain significance |
| rs747859939 | 1:28,275,620 | C/T | — | uncertain significance |
| rs142477376 | 1:28,279,737 | T/C | — | uncertain significance |
| rs565524752 | 1:28,279,792 | G/A | — | uncertain significance |
| rs148814012 | 1:28,279,813 | T/G | — | uncertain significance |
| rs2090469680 | 1:28,279,830 | C/A | — | uncertain significance |
| rs769143439 | 1:28,279,851 | A/G | — | uncertain significance |
| rs1490423794 | 1:28,280,928 | C/T | — | uncertain significance |
| rs113642472 | 1:28,280,971 | G/A | — | benign |
| rs138724868 | 1:28,282,220 | C/T | — | uncertain significance |
| rs142372735 | 1:28,282,271 | A/T | — | uncertain significance |
| rs200902974 | 1:28,282,354 | C/T | — | uncertain significance |
| rs747912911 | 1:28,282,523 | G/C | — | uncertain significance |
| rs769425533 | 1:28,282,525 | G/T | — | uncertain significance |
| rs201223472 | 1:28,282,533 | T/G | — | uncertain significance |
| rs748760018 | 1:28,282,542 | C/A | — | uncertain significance |
| rs368252544 | 1:28,282,555 | C/T | — | uncertain significance |
| rs146150840 | 1:28,282,556 | G/A | — | uncertain significance |
| rs760977995 | 1:28,282,564 | G/A | — | likely benign |
| rs757136867 | 1:28,285,039 | C/T | — | uncertain significance |
| rs199667511 | 1:28,285,040 | G/A | — | likely benign |
| rs750083416 | 1:28,285,042 | G/A | — | uncertain significance |
| rs914586859 | 1:28,285,045 | G/T | — | uncertain significance |
| rs34560878 | 1:28,285,123 | G/A | — | benign |
| rs1250775609 | 1:28,285,128 | G/A | — | uncertain significance |
| rs756470405 | 1:28,285,139 | G/C | — | uncertain significance |
| rs200519512 | 1:28,285,338 | C/T | — | uncertain significance |
| rs1638386564 | 1:28,285,341 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.