ANKH
ANKH inorganic pyrophosphate transport regulator
Summary
This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
Known Variants416 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs145195435 | 5:14,704,920 | C/G | — | benign |
| rs1238103899 | 5:14,704,938 | C/T | — | uncertain significance |
| rs546234916 | 5:14,705,071 | C/T | — | uncertain significance |
| rs116590750 | 5:14,705,080 | C/T | — | benign |
| rs886060065 | 5:14,705,101 | C/T | — | uncertain significance |
| rs182300014 | 5:14,705,143 | T/C | — | benign |
| rs757736999 | 5:14,705,177 | C/T | — | uncertain significance |
| rs886060066 | 5:14,705,265 | A/G | — | uncertain significance |
| rs886060067 | 5:14,705,272 | T/G | — | uncertain significance |
| rs576051028 | 5:14,705,294 | A/G | — | conflicting classifications of pathogenicity |
| rs1373491504 | 5:14,705,300 | T/A | — | uncertain significance |
| rs943017719 | 5:14,705,326 | G/T | — | uncertain significance |
| rs747178382 | 5:14,705,376 | G/A | — | uncertain significance |
| rs886060068 | 5:14,705,394 | A/T | — | uncertain significance |
| rs1423821590 | 5:14,705,400 | A/G | — | uncertain significance |
| rs943784205 | 5:14,705,406 | A/G | — | uncertain significance |
| rs976896150 | 5:14,705,407 | T/C | — | uncertain significance |
| rs886060069 | 5:14,705,408 | C/T | — | uncertain significance |
| rs141264056 | 5:14,705,411 | G/C | — | uncertain significance |
| rs1054439108 | 5:14,705,419 | C/G | — | uncertain significance |
| rs145549693 | 5:14,705,538 | A/G | — | benign |
| rs116362523 | 5:14,705,547 | C/G | — | benign |
| rs187007081 | 5:14,705,581 | C/A | — | uncertain significance |
| rs190396675 | 5:14,705,644 | G/A | — | benign |
| rs26307 | 5:14,705,665 | T/C | — | benign |
| rs886060070 | 5:14,705,713 | C/G | — | uncertain significance |
| rs1200080153 | 5:14,705,727 | C/T | — | uncertain significance |
| rs143143398 | 5:14,705,788 | G/A | — | benign |
| rs79739542 | 5:14,705,847 | G/A | — | benign |
| rs937136472 | 5:14,706,244 | T/C | — | uncertain significance |
| rs901092803 | 5:14,706,324 | A/G | — | uncertain significance |
| rs187771198 | 5:14,706,348 | A/G | — | uncertain significance |
| rs1736946428 | 5:14,706,495 | T/C | — | uncertain significance |
| rs991205856 | 5:14,706,529 | G/T | — | uncertain significance |
| rs886060071 | 5:14,706,602 | A/C | — | uncertain significance |
| rs61502042 | 5:14,706,634 | C/T | — | benign |
| rs1036873430 | 5:14,706,671 | T/G | — | uncertain significance |
| rs78550928 | 5:14,706,682 | T/G | — | benign |
| rs1050130499 | 5:14,706,696 | G/T | — | uncertain significance |
| rs148211290 | 5:14,706,793 | T/C | — | benign |
| rs563509166 | 5:14,706,878 | A/G | — | benign |
| rs141209810 | 5:14,706,955 | G/A | — | benign |
| rs150706862 | 5:14,707,038 | G/T | — | benign |
| rs77573132 | 5:14,707,055 | A/G | — | benign |
| rs776929735 | 5:14,707,056 | A/G | — | uncertain significance |
| rs137905502 | 5:14,707,062 | A/T | — | benign |
| rs147322366 | 5:14,707,087 | A/G | — | benign |
| rs13358074 | 5:14,707,124 | A/C | — | benign |
| rs886060072 | 5:14,707,169 | C/G | — | uncertain significance |
| rs181397772 | 5:14,707,203 | C/T | — | uncertain significance |
| rs528418242 | 5:14,707,344 | A/G | — | uncertain significance |
| rs27911 | 5:14,707,378 | A/G | — | benign |
| rs76635089 | 5:14,707,406 | A/G | — | benign |
| rs559763037 | 5:14,707,407 | A/G | — | benign |
| rs896227717 | 5:14,707,554 | C/T | — | uncertain significance |
| rs25992 | 5:14,707,600 | C/T | — | benign |
| rs563873078 | 5:14,707,608 | A/T | — | benign |
| rs886060073 | 5:14,707,642 | G/A | — | uncertain significance |
| rs141052195 | 5:14,707,678 | A/G | — | benign |
| rs149815187 | 5:14,707,679 | C/T | — | benign |
| rs550672520 | 5:14,707,690 | G/A | — | conflicting classifications of pathogenicity |
| rs144789671 | 5:14,707,739 | C/G | — | uncertain significance |
| rs917646845 | 5:14,707,744 | C/A | — | uncertain significance |
| rs886060074 | 5:14,707,747 | C/G | — | uncertain significance |
| rs185233583 | 5:14,707,752 | G/A | — | uncertain significance |
| rs539426552 | 5:14,707,758 | C/T | — | uncertain significance |
| rs114164305 | 5:14,707,763 | C/A | — | benign |
| rs1006427637 | 5:14,707,797 | C/G | — | uncertain significance |
| rs79059123 | 5:14,707,886 | G/A | — | benign |
| rs368727070 | 5:14,707,920 | C/T | — | uncertain significance |
| rs1736999591 | 5:14,707,947 | A/C | — | uncertain significance |
| rs999138468 | 5:14,708,082 | A/G | — | uncertain significance |
| rs933543701 | 5:14,708,134 | T/C | — | uncertain significance |
| rs1007599533 | 5:14,708,173 | G/T | — | uncertain significance |
| rs182073449 | 5:14,708,332 | C/T | — | likely benign |
| rs919414377 | 5:14,708,347 | A/G | — | uncertain significance |
| rs563898623 | 5:14,708,536 | G/A | — | uncertain significance |
| rs141202503 | 5:14,708,592 | A/G | — | benign |
| rs569690245 | 5:14,708,607 | C/G | — | benign |
| rs886060075 | 5:14,708,612 | A/G | — | uncertain significance |
| rs535920930 | 5:14,708,632 | G/C | — | uncertain significance |
| rs886060076 | 5:14,708,662 | C/G | — | uncertain significance |
| rs143619241 | 5:14,708,763 | C/G | — | benign |
| rs575930682 | 5:14,708,795 | G/A | — | benign |
| rs886060077 | 5:14,708,878 | C/G | — | uncertain significance |
| rs963039838 | 5:14,708,913 | T/A | — | uncertain significance |
| rs185488764 | 5:14,708,914 | C/A | — | benign |
| rs537181523 | 5:14,709,044 | C/A | — | benign |
| rs531980160 | 5:14,709,063 | G/C | — | uncertain significance |
| rs201439698 | 5:14,709,070 | C/T | — | uncertain significance |
| rs191334359 | 5:14,709,106 | A/G | — | benign |
| rs150130025 | 5:14,709,187 | G/A | — | benign |
| rs25991 | 5:14,709,199 | T/C | — | benign |
| rs759890855 | 5:14,709,289 | C/T | — | uncertain significance |
| rs552146695 | 5:14,709,318 | G/C | — | benign |
| rs1017314538 | 5:14,709,412 | A/G | — | uncertain significance |
| rs183138464 | 5:14,709,492 | C/T | — | benign |
| rs775380495 | 5:14,709,534 | G/A | — | uncertain significance |
| rs971385670 | 5:14,709,552 | C/T | — | uncertain significance |
| rs1329037667 | 5:14,709,553 | G/A | — | uncertain significance |
Showing 100 of 416 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.