CDKAL1
CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase
Summary
The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]
Known Variants83 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs762450486 | 6:20,546,677 | G/C | — | uncertain significance |
| rs111739077 | 6:20,546,697 | G/A | missense variant | likely benign |
| rs145537300 | 6:20,546,703 | G/A | — | uncertain significance |
| rs377386894 | 6:20,548,864 | G/T | — | uncertain significance |
| rs202056788 | 6:20,548,877 | A/G | — | uncertain significance |
| rs9460521 | 6:20,567,541 | G/A | intron variant | — |
| rs147434309 | 6:20,577,467 | A/G | intron variant | — |
| rs9366357 | 6:20,599,628 | C/T | intron variant | — |
| rs76235859 | 6:20,626,333 | T/C | intron variant | — |
| rs9460537 | 6:20,632,110 | C/T | intron variant | — |
| rs17224527 | 6:20,632,766 | T/C | — | — |
| rs9348440 | 6:20,641,336 | C/A | — | — |
| rs9350269 | 6:20,649,534 | C/T | — | benign |
| rs9295474 | 6:20,652,717 | C/G | regulatory region variant | — |
| rs4712523 | 6:20,657,564 | A/G | intron variant | — |
| rs4712524 | 6:20,657,865 | A/G | intron variant | — |
| rs10946398 | 6:20,661,034 | A/C | regulatory region variant | uncertain significance |
| rs7772603 | 6:20,665,946 | T/A | — | — |
| rs7752906 | 6:20,666,055 | G/A | intron variant | — |
| rs117656456 | 6:20,671,458 | A/C | intron variant | — |
| rs7451008 | 6:20,673,880 | T/A | — | — |
| rs9368219 | 6:20,674,691 | C/T | intron variant | — |
| rs1012636 | 6:20,674,811 | G/T | intron variant | — |
| rs35261542 | 6:20,675,792 | C/A | intron variant | — |
| rs4712528 | 6:20,678,430 | G/T | — | — |
| rs7756992 | 6:20,679,709 | A/G | intron variant | uncertain significance |
| rs9348441 | 6:20,680,678 | T/A | intron variant | — |
| rs9350271 | 6:20,683,164 | G/A | intron variant | — |
| rs7754840 | 6:20,685,047 | G/C | intron variant | risk factor |
| rs9356744 | 6:20,685,486 | T/C | intron variant | — |
| rs7766070 | 6:20,686,573 | C/A | regulatory region variant | — |
| rs9368222 | 6:20,686,996 | C/T | — | — |
| rs10440833 | 6:20,688,121 | T/A | intron variant | — |
| rs4710941 | 6:20,694,228 | C/G | — | — |
| rs2206734 | 6:20,694,884 | C/G | — | — |
| rs6931514 | 6:20,703,952 | A/G | intron variant | — |
| rs11753081 | 6:20,705,590 | T/G | intron variant | — |
| rs9465871 | 6:20,717,255 | T/C | regulatory region variant | — |
| rs9460550 | 6:20,719,561 | G/C | — | — |
| rs140249932 | 6:20,725,365 | G/A | upstream gene variant | — |
| rs7747752 | 6:20,725,423 | G/A | — | — |
| rs117267852 | 6:20,725,955 | C/T | upstream gene variant | — |
| rs6908425 | 6:20,728,731 | T/C | upstream gene variant | — |
| rs1773351174 | 6:20,739,755 | C/T | — | uncertain significance |
| rs374349042 | 6:20,739,760 | G/A | — | uncertain significance |
| rs149431105 | 6:20,739,812 | G/A | — | uncertain significance |
| rs371654479 | 6:20,739,833 | T/A | — | uncertain significance |
| rs7747724 | 6:20,751,315 | T/G | — | — |
| rs866091749 | 6:20,758,841 | C/A | — | uncertain significance |
| rs4510656 | 6:20,766,697 | C/G | — | — |
| rs74371219 | 6:20,772,556 | A/G | intron variant | — |
| rs752407516 | 6:20,781,421 | G/A | — | uncertain significance |
| rs34113701 | 6:20,781,449 | G/A | — | benign |
| rs769016538 | 6:20,781,453 | A/G | — | uncertain significance |
| rs149781755 | 6:20,808,263 | A/G | intron variant | — |
| rs9358372 | 6:20,812,588 | G/C | — | — |
| rs769197136 | 6:20,846,371 | T/C | — | uncertain significance |
| rs4712556 | 6:20,856,703 | A/G | intron variant | — |
| rs5007237 | 6:20,861,226 | A/G | — | — |
| rs75153093 | 6:20,862,893 | T/C | — | — |
| rs12154181 | 6:20,899,840 | C/T | intron variant | — |
| rs1347100951 | 6:20,955,674 | C/A | — | uncertain significance |
| rs987035728 | 6:20,955,725 | C/T | — | uncertain significance |
| rs773322542 | 6:21,023,288 | A/C | — | — |
| rs372282978 | 6:21,065,326 | G/A | — | uncertain significance |
| rs770105916 | 6:21,065,424 | C/T | — | uncertain significance |
| rs77152992 | 6:21,065,449 | C/T | missense variant | — |
| rs11757677 | 6:21,073,029 | G/A | intron variant | — |
| rs9295499 | 6:21,160,689 | C/T | — | — |
| rs6935117 | 6:21,164,131 | A/G | intron variant | — |
| rs553804984 | 6:21,198,307 | A/T | — | likely benign |
| rs748595433 | 6:21,201,367 | C/A | — | uncertain significance |
| rs770484425 | 6:21,201,368 | A/C | — | uncertain significance |
| rs2532956576 | 6:21,201,380 | G/A | — | uncertain significance |
| rs377523274 | 6:21,201,429 | C/G | — | uncertain significance |
| rs146421036 | 6:21,201,453 | C/T | — | uncertain significance |
| rs114325352 | 6:21,231,075 | A/G | — | benign |
| rs1562135423 | 6:21,231,130 | G/A | — | uncertain significance |
| rs757703638 | 6:21,231,141 | G/T | — | uncertain significance |
| rs748786790 | 6:21,231,152 | C/T | — | uncertain significance |
| rs747005469 | 6:21,231,200 | C/T | — | uncertain significance |
| rs769795415 | 6:21,231,214 | G/A | — | uncertain significance |
| rs34084405 | 6:21,231,222 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.