DGKH
diacylglycerol kinase eta
Summary
This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]
Known Variants76 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs942531075 | 13:42,622,933 | C/G | — | uncertain significance |
| rs779646121 | 13:42,622,968 | G/C | — | uncertain significance |
| rs2542009952 | 13:42,623,047 | G/C | — | uncertain significance |
| rs146767281 | 13:42,623,094 | G/A | — | uncertain significance |
| rs6561030 | 13:42,631,719 | C/A | intron variant | — |
| rs4318109 | 13:42,641,307 | T/A | downstream gene variant | — |
| rs1012053 | 13:42,653,437 | C/A | intron variant | — |
| rs1182959 | 13:42,674,601 | A/G | intron variant | — |
| rs1170191 | 13:42,675,493 | A/G | intron variant | — |
| rs1170174 | 13:42,688,211 | A/G | intron variant | — |
| rs201753254 | 13:42,701,660 | G/T | — | uncertain significance |
| rs670676 | 13:42,701,739 | A/T | intron variant | — |
| rs994856 | 13:42,708,451 | A/G | regulatory region variant | — |
| rs376960769 | 13:42,716,642 | T/C | — | — |
| rs9525580 | 13:42,720,699 | G/A | intron variant | — |
| rs11616202 | 13:42,726,482 | G/A | intron variant | — |
| rs1315137988 | 13:42,729,506 | C/A | — | uncertain significance |
| rs2542353622 | 13:42,729,509 | T/C | — | uncertain significance |
| rs765248663 | 13:42,729,526 | T/A | — | uncertain significance |
| rs61756563 | 13:42,729,832 | A/G | synonymous variant | — |
| rs139117984 | 13:42,733,465 | C/T | — | uncertain significance |
| rs9525584 | 13:42,734,894 | T/C | intron variant | — |
| rs12430054 | 13:42,737,012 | T/A | — | — |
| rs9594689 | 13:42,737,268 | T/A | — | — |
| rs9594690 | 13:42,737,270 | T/G | — | — |
| rs73187288 | 13:42,738,672 | A/C | intron variant | — |
| rs9525588 | 13:42,739,233 | A/G | intron variant | — |
| rs2542395836 | 13:42,739,561 | A/G | — | uncertain significance |
| rs73187291 | 13:42,740,063 | C/T | intron variant | — |
| rs139002109 | 13:42,740,678 | G/A | — | uncertain significance |
| rs745343108 | 13:42,740,744 | G/A | — | uncertain significance |
| rs766686422 | 13:42,740,800 | C/G | — | uncertain significance |
| rs7328064 | 13:42,746,118 | A/C | downstream gene variant | — |
| rs67332916 | 13:42,749,711 | C/A | — | — |
| rs1956656296 | 13:42,752,334 | G/A | — | uncertain significance |
| rs4142110 | 13:42,754,522 | T/A | — | — |
| rs34445998 | 13:42,757,213 | C/G | — | — |
| rs151042099 | 13:42,761,201 | G/A | — | uncertain significance |
| rs764187776 | 13:42,761,213 | G/A | — | uncertain significance |
| rs41288303 | 13:42,761,230 | G/A | — | likely benign |
| rs375491822 | 13:42,761,232 | C/T | — | uncertain significance |
| rs147914294 | 13:42,761,244 | C/A | — | likely benign |
| rs745829392 | 13:42,763,195 | C/T | — | likely benign |
| rs566176942 | 13:42,763,196 | G/A | — | uncertain significance |
| rs2542474922 | 13:42,763,259 | C/G | — | uncertain significance |
| rs2542475888 | 13:42,763,373 | C/T | — | uncertain significance |
| rs780091200 | 13:42,763,412 | G/A | — | uncertain significance |
| rs758155242 | 13:42,764,550 | C/G | — | uncertain significance |
| rs1957037056 | 13:42,764,613 | G/A | — | uncertain significance |
| rs113799173 | 13:42,764,640 | G/A | — | uncertain significance |
| rs10492436 | 13:42,768,238 | C/T | intron variant | — |
| rs776451710 | 13:42,769,036 | G/A | — | uncertain significance |
| rs539855622 | 13:42,769,138 | G/A | — | uncertain significance |
| rs150663668 | 13:42,772,701 | C/T | — | uncertain significance |
| rs781776376 | 13:42,772,709 | A/G | — | uncertain significance |
| rs747620487 | 13:42,773,724 | G/A | — | uncertain significance |
| rs4942099 | 13:42,775,190 | G/T | — | — |
| rs67354544 | 13:42,781,707 | C/A | — | — |
| rs376697175 | 13:42,783,155 | A/G | — | likely benign |
| rs765044170 | 13:42,783,543 | C/T | — | uncertain significance |
| rs1957634079 | 13:42,784,840 | G/A | — | uncertain significance |
| rs2138218647 | 13:42,788,647 | T/C | — | uncertain significance |
| rs61757579 | 13:42,793,468 | C/A | — | uncertain significance |
| rs180870 | 13:42,793,479 | G/A | synonymous variant | — |
| rs1594231874 | 13:42,793,825 | C/A | — | uncertain significance |
| rs770170245 | 13:42,793,916 | C/T | — | uncertain significance |
| rs1301999827 | 13:42,795,438 | G/C | — | uncertain significance |
| rs201300294 | 13:42,795,444 | C/T | — | uncertain significance |
| rs750462553 | 13:42,795,448 | A/G | — | uncertain significance |
| rs373528675 | 13:42,795,477 | C/T | — | uncertain significance |
| rs141670706 | 13:42,795,506 | G/C | — | uncertain significance |
| rs146220534 | 13:42,795,507 | C/T | — | uncertain significance |
| rs753257322 | 13:42,803,236 | A/T | — | uncertain significance |
| rs372968115 | 13:42,803,248 | C/T | — | uncertain significance |
| rs17646069 | 13:42,803,263 | T/C | missense variant | — |
| rs202158354 | 13:42,803,319 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.