ABHD1
abhydrolase domain containing 1
Summary
This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375202801 | 2:27,346,841 | C/A | — | uncertain significance |
| rs768037800 | 2:27,346,889 | G/T | — | uncertain significance |
| rs146509505 | 2:27,346,928 | C/A | — | uncertain significance |
| rs4665947 | 2:27,348,029 | T/C | intron variant | — |
| rs12614792 | 2:27,349,786 | A/C | — | — |
| rs766954604 | 2:27,351,363 | T/C | — | likely benign |
| rs752653823 | 2:27,351,364 | C/T | — | uncertain significance |
| rs200681725 | 2:27,351,367 | T/C | — | uncertain significance |
| rs138279491 | 2:27,351,376 | A/G | — | uncertain significance |
| rs762828540 | 2:27,351,824 | A/C | — | uncertain significance |
| rs757800730 | 2:27,351,851 | T/C | — | uncertain significance |
| rs751924271 | 2:27,351,945 | G/C | — | uncertain significance |
| rs143218502 | 2:27,351,973 | C/G | — | uncertain significance |
| rs1246786637 | 2:27,352,382 | A/C | — | uncertain significance |
| rs144288127 | 2:27,352,449 | G/A | — | uncertain significance |
| rs775220730 | 2:27,352,690 | C/G | — | uncertain significance |
| rs764586880 | 2:27,352,981 | A/G | — | uncertain significance |
| rs371626040 | 2:27,353,132 | G/A | — | uncertain significance |
| rs763250835 | 2:27,353,139 | T/G | — | uncertain significance |
| rs199861424 | 2:27,353,147 | G/A | — | uncertain significance |
| rs2465867451 | 2:27,353,173 | C/G | — | uncertain significance |
| rs375564608 | 2:27,353,191 | T/C | — | uncertain significance |
| rs201854208 | 2:27,353,231 | G/A | — | likely benign |
| rs1055079239 | 2:27,353,271 | C/A | — | uncertain significance |
| rs770862474 | 2:27,353,494 | C/T | — | uncertain significance |
| rs751961865 | 2:27,353,517 | C/T | — | uncertain significance |
| rs375461405 | 2:27,353,535 | G/A | — | uncertain significance |
| rs181070882 | 2:27,353,562 | G/A | — | uncertain significance |
| rs138274611 | 2:27,353,577 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.