BTBD9
BTB domain containing 9
Summary
This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12663450 | 6:38,135,730 | A/G | downstream gene variant | — |
| rs115108486 | 6:38,142,403 | C/T | 3 prime UTR variant | — |
| rs763877928 | 6:38,142,795 | G/C | — | uncertain significance |
| rs746738115 | 6:38,142,831 | G/A | — | uncertain significance |
| rs375888918 | 6:38,142,912 | T/A | — | uncertain significance |
| rs763503283 | 6:38,160,327 | G/A | — | uncertain significance |
| rs147304635 | 6:38,170,716 | G/A | upstream gene variant | — |
| rs182279616 | 6:38,185,020 | G/A | intron variant | — |
| rs62397009 | 6:38,191,086 | G/A | intron variant | — |
| rs551188543 | 6:38,194,800 | C/T | — | — |
| rs143004712 | 6:38,215,397 | C/G | intron variant | — |
| rs1229518751 | 6:38,224,216 | T/C | — | uncertain significance |
| rs61757644 | 6:38,224,249 | C/T | — | uncertain significance |
| rs548181714 | 6:38,245,528 | G/T | — | — |
| rs2532515497 | 6:38,256,076 | C/T | — | uncertain significance |
| rs778650404 | 6:38,256,214 | T/C | — | uncertain significance |
| rs746441722 | 6:38,256,228 | T/G | — | uncertain significance |
| rs2532683625 | 6:38,312,790 | T/G | — | uncertain significance |
| rs80199543 | 6:38,314,762 | G/A | regulatory region variant | — |
| rs9394492 | 6:38,332,610 | C/T | intron variant | — |
| rs4714156 | 6:38,361,112 | C/G | — | — |
| rs9296249 | 6:38,365,841 | T/C | intron variant | — |
| rs9357271 | 6:38,365,873 | T/G | — | — |
| rs189129074 | 6:38,377,224 | T/C | intron variant | — |
| rs2745384 | 6:38,389,698 | A/C | — | — |
| rs78128943 | 6:38,396,043 | G/A | — | — |
| rs9357273 | 6:38,396,383 | T/A | — | — |
| rs6899746 | 6:38,412,788 | G/C | — | — |
| rs9380753 | 6:38,416,590 | G/C | — | — |
| rs79673678 | 6:38,425,093 | G/A | intron variant | — |
| rs9369062 | 6:38,437,303 | A/C | intron variant | — |
| rs4714163 | 6:38,438,771 | T/G | — | — |
| rs3923809 | 6:38,440,970 | A/G | intron variant | — |
| rs61192259 | 6:38,453,962 | C/A | downstream gene variant | — |
| rs34871682 | 6:38,477,642 | C/T | regulatory region variant | — |
| rs10947744 | 6:38,479,865 | T/C | intron variant | — |
| rs6923737 | 6:38,483,564 | T/A | — | — |
| rs7748839 | 6:38,488,568 | T/C | — | — |
| rs10947745 | 6:38,488,569 | A/T | — | — |
| rs140307505 | 6:38,517,060 | T/C | intron variant | — |
| rs115171707 | 6:38,524,070 | T/C | intron variant | — |
| rs370583701 | 6:38,545,385 | C/T | — | uncertain significance |
| rs750281932 | 6:38,545,438 | T/G | — | likely benign |
| rs760001658 | 6:38,545,452 | A/T | — | uncertain significance |
| rs368495590 | 6:38,545,467 | T/C | — | uncertain significance |
| rs774447245 | 6:38,545,475 | T/A | — | uncertain significance |
| rs767900333 | 6:38,548,003 | C/T | — | uncertain significance |
| rs974992194 | 6:38,548,023 | T/C | — | uncertain significance |
| rs774273427 | 6:38,548,067 | C/T | — | uncertain significance |
| rs772386134 | 6:38,548,072 | C/T | — | uncertain significance |
| rs2533624031 | 6:38,560,432 | A/C | — | uncertain significance |
| rs41303370 | 6:38,560,449 | C/T | — | benign |
| rs1416707237 | 6:38,560,571 | C/T | — | uncertain significance |
| rs770637025 | 6:38,561,804 | C/A | — | uncertain significance |
| rs373994469 | 6:38,561,819 | A/G | — | uncertain significance |
| rs376880486 | 6:38,561,820 | A/T | — | uncertain significance |
| rs775409342 | 6:38,561,973 | T/C | — | uncertain significance |
| rs546808376 | 6:38,561,987 | G/A | — | uncertain significance |
| rs755726517 | 6:38,561,993 | C/T | — | uncertain significance |
| rs150015110 | 6:38,561,994 | G/A | — | uncertain significance |
| rs747508263 | 6:38,562,038 | G/A | — | uncertain significance |
| rs776631922 | 6:38,562,047 | T/C | — | uncertain significance |
| rs2533635028 | 6:38,562,062 | G/A | — | uncertain significance |
| rs201049717 | 6:38,565,759 | C/T | — | uncertain significance |
| rs35152718 | 6:38,588,203 | C/T | intron variant | — |
| rs117733138 | 6:38,594,655 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.