CHDH
choline dehydrogenase
Summary
The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12485510 | 3:53,850,209 | C/A | — | — |
| rs11714712 | 3:53,850,855 | A/C | — | — |
| rs777919420 | 3:53,851,878 | T/A | — | uncertain significance |
| rs370861018 | 3:53,851,917 | C/T | — | uncertain significance |
| rs2095618571 | 3:53,851,922 | A/G | — | uncertain significance |
| rs762533547 | 3:53,852,022 | C/T | — | uncertain significance |
| rs34336629 | 3:53,852,053 | G/C | — | likely benign |
| rs1478315264 | 3:53,852,073 | C/T | — | uncertain significance |
| rs2474604548 | 3:53,852,087 | A/G | — | uncertain significance |
| rs762655955 | 3:53,852,098 | C/G | — | uncertain significance |
| rs1034282100 | 3:53,852,138 | T/C | — | uncertain significance |
| rs768181368 | 3:53,852,201 | C/T | — | uncertain significance |
| rs138363055 | 3:53,852,920 | G/A | intron variant | — |
| rs1454224910 | 3:53,852,967 | G/T | — | uncertain significance |
| rs115687288 | 3:53,853,206 | T/C | intron variant | — |
| rs749080484 | 3:53,853,585 | C/T | — | uncertain significance |
| rs749946328 | 3:53,853,635 | G/A | — | uncertain significance |
| rs376011719 | 3:53,853,697 | C/G | — | likely benign |
| rs764324618 | 3:53,854,504 | T/C | — | uncertain significance |
| rs184338220 | 3:53,854,542 | C/T | — | likely benign |
| rs567766879 | 3:53,854,543 | G/A | — | uncertain significance |
| rs780132366 | 3:53,854,578 | C/T | — | likely benign |
| rs1178161402 | 3:53,854,633 | C/T | — | uncertain significance |
| rs9836592 | 3:53,855,083 | C/T | intron variant | — |
| rs773766584 | 3:53,855,764 | T/C | — | uncertain significance |
| rs6445606 | 3:53,856,050 | C/G | — | — |
| rs201270449 | 3:53,856,525 | C/G | — | uncertain significance |
| rs1032290354 | 3:53,856,553 | C/T | — | uncertain significance |
| rs377715549 | 3:53,856,655 | C/T | — | likely benign |
| rs368281321 | 3:53,856,664 | G/A | — | uncertain significance |
| rs7641850 | 3:53,856,668 | G/A | — | benign |
| rs115218486 | 3:53,856,672 | G/A | — | benign |
| rs76920163 | 3:53,857,055 | T/G | intron variant | — |
| rs754767853 | 3:53,857,401 | G/A | — | uncertain significance |
| rs367721140 | 3:53,857,446 | G/A | — | uncertain significance |
| rs368948549 | 3:53,857,479 | G/A | — | uncertain significance |
| rs758542391 | 3:53,857,507 | C/T | — | uncertain significance |
| rs770950534 | 3:53,857,528 | C/T | — | uncertain significance |
| rs1318155603 | 3:53,857,618 | C/A | — | uncertain significance |
| rs1263572639 | 3:53,857,680 | A/T | — | uncertain significance |
| rs369163349 | 3:53,857,738 | C/T | — | uncertain significance |
| rs72982050 | 3:53,857,781 | C/A | — | benign |
| rs12676 | 3:53,857,803 | A/T | missense variant | — |
| rs2474612866 | 3:53,857,837 | C/A | — | uncertain significance |
| rs761638939 | 3:53,857,839 | C/G | — | uncertain significance |
| rs756292349 | 3:53,857,843 | C/T | — | likely benign |
| rs371031612 | 3:53,857,901 | C/T | — | benign |
| rs375568671 | 3:53,857,912 | T/C | — | uncertain significance |
| rs9001 | 3:53,857,917 | T/G | missense variant | — |
| rs748017070 | 3:53,857,926 | C/G | — | uncertain significance |
| rs2095633962 | 3:53,857,944 | G/A | — | uncertain significance |
| rs776667605 | 3:53,857,954 | G/A | — | uncertain significance |
| rs7626693 | 3:53,858,541 | C/T | intron variant | — |
| rs184781095 | 3:53,870,310 | G/A | intron variant | — |
| rs191030667 | 3:53,871,476 | A/C | intron variant | — |
| rs546378452 | 3:53,872,549 | C/T | — | — |
| rs776104434 | 3:53,877,212 | C/T | — | — |
| rs191380308 | 3:53,877,520 | G/C | regulatory region variant | — |
| rs2289205 | 3:53,878,616 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.