WDR36
WD repeat domain 36
Summary
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]
Known Variants179 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10045577 | 5:110,426,451 | C/G | — | — |
| rs72776797 | 5:110,427,752 | A/G | — | benign |
| rs79881201 | 5:110,427,795 | C/T | — | benign |
| rs1064796838 | 5:110,427,991 | G/A | — | uncertain significance |
| rs148831021 | 5:110,428,037 | G/A | — | likely benign |
| rs145437203 | 5:110,428,060 | T/C | — | benign |
| rs148041801 | 5:110,428,077 | C/A | — | uncertain significance |
| rs35629723 | 5:110,428,085 | C/G | — | conflicting classifications of pathogenicity |
| rs76533782 | 5:110,428,093 | A/C | — | likely benign |
| rs759796856 | 5:110,428,161 | C/T | — | uncertain significance |
| rs202177498 | 5:110,428,180 | C/A | — | uncertain significance |
| rs376575241 | 5:110,428,207 | G/T | — | uncertain significance |
| rs369810645 | 5:110,428,209 | G/C | — | uncertain significance |
| rs1197387779 | 5:110,428,230 | G/A | — | uncertain significance |
| rs1309683888 | 5:110,428,242 | G/T | — | uncertain significance |
| rs200337257 | 5:110,428,265 | G/T | — | uncertain significance |
| rs772030651 | 5:110,428,269 | C/G | — | uncertain significance |
| rs199548073 | 5:110,428,286 | C/T | — | benign |
| rs766756355 | 5:110,428,308 | A/G | — | uncertain significance |
| rs753451887 | 5:110,428,309 | C/T | — | uncertain significance |
| rs778483687 | 5:110,428,312 | A/T | — | uncertain significance |
| rs77005225 | 5:110,430,354 | A/G | — | benign |
| rs115541547 | 5:110,432,794 | G/A | — | uncertain significance |
| rs758601566 | 5:110,432,809 | G/A | — | uncertain significance |
| rs778033080 | 5:110,432,810 | C/T | — | uncertain significance |
| rs148990528 | 5:110,432,820 | C/T | — | benign |
| rs17132775 | 5:110,432,841 | T/C | — | benign |
| rs2531781516 | 5:110,432,846 | A/G | — | uncertain significance |
| rs13185610 | 5:110,433,086 | A/G | — | benign |
| rs1993465 | 5:110,433,098 | A/G | — | benign |
| rs7705304 | 5:110,434,261 | T/G | — | benign |
| rs75030547 | 5:110,434,293 | A/C | — | benign |
| rs13153937 | 5:110,434,307 | G/A | intron variant | benign |
| rs375254208 | 5:110,434,427 | A/G | — | uncertain significance |
| rs781534721 | 5:110,434,438 | G/A | — | uncertain significance |
| rs62376783 | 5:110,434,448 | C/T | — | likely benign |
| rs150299003 | 5:110,434,462 | T/C | — | likely benign |
| rs1366875217 | 5:110,434,480 | C/A | — | uncertain significance |
| rs115613950 | 5:110,434,604 | A/G | — | likely benign |
| rs2416257 | 5:110,435,490 | C/T | intron variant | — |
| rs377271964 | 5:110,436,269 | A/C | — | likely benign |
| rs137855986 | 5:110,436,301 | G/A | — | likely benign |
| rs142088179 | 5:110,436,345 | A/C | — | likely benign |
| rs145835374 | 5:110,436,346 | T/C | — | likely benign |
| rs2112568546 | 5:110,436,366 | A/C | — | uncertain significance |
| rs765451318 | 5:110,436,398 | C/G | — | uncertain significance |
| rs10038177 | 5:110,436,450 | C/T | intron variant | benign |
| rs762142269 | 5:110,438,045 | A/G | — | uncertain significance |
| rs1053782133 | 5:110,438,060 | T/A | — | uncertain significance |
| rs10045255 | 5:110,438,357 | A/G | — | benign |
| rs78100983 | 5:110,439,240 | G/A | — | benign |
| rs10065045 | 5:110,439,264 | C/G | — | likely benign |
| rs772498725 | 5:110,439,494 | G/A | — | uncertain significance |
| rs11241095 | 5:110,439,509 | A/G | missense variant | benign |
| rs764960186 | 5:110,439,539 | C/T | — | uncertain significance |
| rs149310387 | 5:110,439,573 | T/G | — | uncertain significance |
| rs201733427 | 5:110,439,576 | G/A | — | uncertain significance |
| rs1431880434 | 5:110,439,586 | G/A | — | uncertain significance |
| rs773683578 | 5:110,439,612 | G/A | — | uncertain significance |
| rs199579703 | 5:110,439,837 | T/G | — | likely benign |
| rs146067768 | 5:110,439,918 | T/C | — | uncertain significance |
| rs761389970 | 5:110,439,931 | T/G | — | uncertain significance |
| rs143572710 | 5:110,439,989 | G/A | — | uncertain significance |
| rs921093568 | 5:110,439,992 | C/A | — | uncertain significance |
| rs17553055 | 5:110,440,003 | C/T | — | likely benign |
| rs139303905 | 5:110,440,033 | C/T | — | likely benign |
| rs142687756 | 5:110,440,034 | G/T | — | uncertain significance |
| rs118204022 | 5:110,440,041 | A/G | missense variant | pathogenic |
| rs74383673 | 5:110,440,318 | T/C | — | benign |
| rs190144369 | 5:110,440,378 | G/A | — | benign |
| rs79464885 | 5:110,440,388 | C/G | — | likely benign |
| rs753999568 | 5:110,440,431 | A/G | — | likely benign |
| rs765669337 | 5:110,440,441 | T/C | — | uncertain significance |
| rs756934302 | 5:110,440,466 | T/C | — | uncertain significance |
| rs78937749 | 5:110,440,547 | T/G | — | benign |
| rs749942238 | 5:110,440,976 | T/C | — | likely benign |
| rs530423287 | 5:110,441,025 | G/A | — | likely benign |
| rs141993835 | 5:110,441,044 | A/C | — | uncertain significance |
| rs113544667 | 5:110,441,259 | A/G | — | likely benign |
| rs114188680 | 5:110,441,286 | C/G | — | benign |
| rs2034896 | 5:110,441,533 | G/A | — | benign |
| rs2034897 | 5:110,441,561 | T/C | — | benign |
| rs2531798860 | 5:110,441,736 | C/G | — | likely benign |
| rs537307733 | 5:110,441,782 | C/T | — | uncertain significance |
| rs145743089 | 5:110,441,783 | G/A | — | uncertain significance |
| rs35703638 | 5:110,441,839 | G/A | missense variant | uncertain significance |
| rs116162770 | 5:110,442,778 | C/T | — | likely benign |
| rs2531801169 | 5:110,443,020 | G/T | — | uncertain significance |
| rs140155952 | 5:110,443,041 | G/A | — | uncertain significance |
| rs775342501 | 5:110,443,106 | A/G | — | uncertain significance |
| rs10038058 | 5:110,443,281 | A/G | — | benign |
| rs145531894 | 5:110,443,404 | A/C | — | likely benign |
| rs1598728 | 5:110,443,447 | T/G | — | benign |
| rs13178997 | 5:110,444,249 | G/T | — | benign |
| rs1428494481 | 5:110,445,920 | T/A | — | likely benign |
| rs375798656 | 5:110,445,962 | G/A | — | uncertain significance |
| rs116529882 | 5:110,445,979 | G/A | missense variant | pathogenic |
| rs759320396 | 5:110,445,982 | G/C | — | uncertain significance |
| rs34962120 | 5:110,446,091 | G/A | — | benign |
| rs377765180 | 5:110,446,569 | A/G | — | benign |
Showing 100 of 179 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.