THSD7A
thrombospondin type 1 domain containing 7A
Summary
The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]
Known Variants148 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs748913053 | 7:11,415,431 | G/A | — | uncertain significance |
| rs56264449 | 7:11,415,439 | A/G | — | benign |
| rs1204686496 | 7:11,415,450 | A/C | — | uncertain significance |
| rs768818431 | 7:11,415,479 | C/T | — | uncertain significance |
| rs747304526 | 7:11,416,215 | G/C | — | uncertain significance |
| rs940691747 | 7:11,416,237 | C/A | — | uncertain significance |
| rs144799458 | 7:11,416,280 | C/T | — | likely benign |
| rs1782399348 | 7:11,418,711 | T/C | — | uncertain significance |
| rs1199910057 | 7:11,418,765 | T/G | — | uncertain significance |
| rs369154926 | 7:11,418,807 | A/G | — | uncertain significance |
| rs373536266 | 7:11,418,826 | C/T | — | uncertain significance |
| rs201552692 | 7:11,418,900 | G/T | — | conflicting classifications of pathogenicity |
| rs138073597 | 7:11,419,259 | C/T | — | uncertain significance |
| rs2533599507 | 7:11,419,277 | G/A | — | uncertain significance |
| rs17164530 | 7:11,419,287 | C/T | — | benign |
| rs780100267 | 7:11,422,210 | C/G | — | uncertain significance |
| rs575224171 | 7:11,433,422 | G/T | — | — |
| rs756952682 | 7:11,441,471 | C/G | — | uncertain significance |
| rs1783580743 | 7:11,445,968 | T/A | — | uncertain significance |
| rs200289410 | 7:11,446,030 | A/T | — | conflicting classifications of pathogenicity |
| rs778209809 | 7:11,446,097 | G/A | — | uncertain significance |
| rs148939821 | 7:11,446,574 | C/T | — | benign |
| rs973244783 | 7:11,446,656 | T/C | — | uncertain significance |
| rs61996269 | 7:11,446,658 | A/G | — | likely benign |
| rs375240025 | 7:11,446,939 | G/A | — | uncertain significance |
| rs1384828010 | 7:11,446,959 | T/G | — | uncertain significance |
| rs189992909 | 7:11,450,824 | A/G | — | likely benign |
| rs540956285 | 7:11,450,857 | C/G | — | uncertain significance |
| rs375611920 | 7:11,450,874 | C/T | — | uncertain significance |
| rs2533689194 | 7:11,450,943 | C/T | — | uncertain significance |
| rs765323010 | 7:11,452,304 | G/T | — | uncertain significance |
| rs756149664 | 7:11,452,330 | G/C | — | uncertain significance |
| rs2533692805 | 7:11,452,349 | T/G | — | uncertain significance |
| rs770506365 | 7:11,452,405 | C/T | — | uncertain significance |
| rs1783998084 | 7:11,457,084 | C/T | — | uncertain significance |
| rs765080637 | 7:11,457,086 | T/G | — | uncertain significance |
| rs756964012 | 7:11,457,109 | A/G | — | uncertain significance |
| rs372967845 | 7:11,457,110 | T/C | — | uncertain significance |
| rs896625264 | 7:11,457,114 | A/G | — | uncertain significance |
| rs769207168 | 7:11,457,117 | C/T | — | uncertain significance |
| rs751745766 | 7:11,457,147 | C/T | — | uncertain significance |
| rs1459771817 | 7:11,457,171 | G/T | — | uncertain significance |
| rs2533707000 | 7:11,457,216 | G/A | — | uncertain significance |
| rs1453822904 | 7:11,464,327 | C/A | — | uncertain significance |
| rs749274592 | 7:11,464,363 | G/A | — | uncertain significance |
| rs1369013634 | 7:11,464,427 | G/C | — | uncertain significance |
| rs2533736416 | 7:11,466,308 | T/G | — | likely benign |
| rs373848277 | 7:11,468,644 | C/T | — | uncertain significance |
| rs2533790093 | 7:11,485,718 | G/C | — | uncertain significance |
| rs1583756627 | 7:11,485,720 | C/T | — | uncertain significance |
| rs778588439 | 7:11,485,733 | C/T | — | uncertain significance |
| rs926299433 | 7:11,485,810 | A/G | — | uncertain significance |
| rs925655524 | 7:11,485,891 | T/G | — | uncertain significance |
| rs199635710 | 7:11,486,901 | T/C | — | uncertain significance |
| rs767239733 | 7:11,486,916 | T/C | — | uncertain significance |
| rs771032468 | 7:11,486,961 | C/A | — | uncertain significance |
| rs1356127390 | 7:11,486,979 | G/A | — | uncertain significance |
| rs552411342 | 7:11,486,988 | C/T | — | uncertain significance |
| rs373283536 | 7:11,487,039 | C/T | — | uncertain significance |
| rs370943585 | 7:11,500,324 | G/A | — | uncertain significance |
| rs199705914 | 7:11,500,346 | C/T | — | uncertain significance |
| rs7807697 | 7:11,501,652 | C/T | — | likely benign |
| rs2533832117 | 7:11,501,659 | G/T | — | uncertain significance |
| rs778306076 | 7:11,501,663 | C/A | — | uncertain significance |
| rs752069367 | 7:11,501,672 | C/A | — | uncertain significance |
| rs746269442 | 7:11,501,683 | T/C | — | uncertain significance |
| rs139941041 | 7:11,501,732 | T/C | — | uncertain significance |
| rs1405956102 | 7:11,501,737 | C/T | — | uncertain significance |
| rs750735011 | 7:11,501,740 | T/C | — | uncertain significance |
| rs371236468 | 7:11,509,512 | T/C | — | uncertain significance |
| rs768813990 | 7:11,509,604 | C/T | — | uncertain significance |
| rs202131463 | 7:11,509,609 | G/T | — | uncertain significance |
| rs764945020 | 7:11,509,631 | C/T | — | likely benign |
| rs201432980 | 7:11,513,978 | G/C | — | likely benign |
| rs2533867719 | 7:11,514,001 | T/C | — | uncertain significance |
| rs756820074 | 7:11,514,024 | A/G | — | uncertain significance |
| rs2533868043 | 7:11,514,049 | A/G | — | uncertain significance |
| rs201383884 | 7:11,514,105 | G/T | — | uncertain significance |
| rs1786075189 | 7:11,514,132 | C/T | — | uncertain significance |
| rs375755926 | 7:11,514,153 | C/T | — | uncertain significance |
| rs368915551 | 7:11,514,186 | C/T | — | likely benign |
| rs745415841 | 7:11,521,445 | G/C | — | uncertain significance |
| rs755497391 | 7:11,521,448 | C/T | — | uncertain significance |
| rs185949384 | 7:11,521,507 | G/A | — | likely benign |
| rs746938293 | 7:11,521,508 | T/G | — | uncertain significance |
| rs762771726 | 7:11,521,562 | G/A | — | uncertain significance |
| rs2533892691 | 7:11,521,594 | C/G | — | uncertain significance |
| rs369464375 | 7:11,521,606 | T/C | — | uncertain significance |
| rs62438221 | 7:11,539,263 | A/T | intron variant | — |
| rs10260419 | 7:11,564,385 | C/G | downstream gene variant | — |
| rs370197184 | 7:11,581,115 | C/T | — | uncertain significance |
| rs187714476 | 7:11,581,136 | C/T | — | uncertain significance |
| rs1789148001 | 7:11,581,153 | G/C | — | uncertain significance |
| rs2534065275 | 7:11,581,174 | G/A | — | uncertain significance |
| rs374390277 | 7:11,581,199 | C/T | — | uncertain significance |
| rs371584882 | 7:11,581,210 | G/C | — | uncertain significance |
| rs201646357 | 7:11,581,228 | T/C | — | uncertain significance |
| rs751533527 | 7:11,581,232 | T/C | — | uncertain significance |
| rs745722504 | 7:11,581,240 | C/T | — | uncertain significance |
| rs770301666 | 7:11,582,620 | A/G | — | likely benign |
Showing 100 of 148 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.