SMAD6
SMAD family member 6
Summary
The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
Known Variants695 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8042545 | 15:66,992,821 | G/A | regulatory region variant | — |
| rs8042578 | 15:66,992,964 | C/G | regulatory region variant | — |
| rs56385383 | 15:66,993,871 | C/T | regulatory region variant | — |
| rs62005619 | 15:66,994,830 | C/T | — | benign |
| rs34643453 | 15:66,995,075 | G/A | regulatory region variant | — |
| rs4776822 | 15:66,995,323 | G/A | — | benign |
| rs138443554 | 15:66,995,553 | C/T | — | likely benign |
| rs2545310139 | 15:66,995,597 | A/G | — | uncertain significance |
| rs1409145798 | 15:66,995,598 | T/G | — | uncertain significance |
| rs1273492999 | 15:66,995,600 | T/G | — | uncertain significance |
| rs1337502697 | 15:66,995,604 | G/A | — | uncertain significance |
| rs1378383800 | 15:66,995,605 | G/T | — | uncertain significance |
| rs2545310182 | 15:66,995,608 | C/T | — | likely benign |
| rs762143900 | 15:66,995,612 | C/T | — | uncertain significance |
| rs1893016037 | 15:66,995,614 | C/G | — | likely benign |
| rs1448375284 | 15:66,995,615 | T/C | — | uncertain significance |
| rs1418570348 | 15:66,995,616 | C/A | — | uncertain significance |
| rs2140580360 | 15:66,995,617 | G/A | — | likely benign |
| rs1055162146 | 15:66,995,621 | C/G | — | uncertain significance |
| rs1893016336 | 15:66,995,622 | T/C | — | uncertain significance |
| rs1351609155 | 15:66,995,624 | G/T | — | uncertain significance |
| rs1426799911 | 15:66,995,625 | T/G | — | uncertain significance |
| rs2545310242 | 15:66,995,628 | G/A | — | uncertain significance |
| rs1241989233 | 15:66,995,630 | C/T | — | conflicting classifications of pathogenicity |
| rs946785791 | 15:66,995,631 | G/A | — | uncertain significance |
| rs1893016936 | 15:66,995,634 | T/A | — | likely pathogenic |
| rs1353173742 | 15:66,995,636 | T/A | — | conflicting classifications of pathogenicity |
| rs2545310288 | 15:66,995,637 | G/A | — | conflicting classifications of pathogenicity |
| rs1246889300 | 15:66,995,638 | G/A | — | conflicting classifications of pathogenicity |
| rs766270982 | 15:66,995,639 | C/G | — | uncertain significance |
| rs1278457617 | 15:66,995,645 | C/A | — | uncertain significance |
| rs1893017363 | 15:66,995,646 | G/A | — | uncertain significance |
| rs1221430921 | 15:66,995,649 | T/G | — | uncertain significance |
| rs1210695230 | 15:66,995,651 | G/C | — | uncertain significance |
| rs188799901 | 15:66,995,657 | G/A | — | likely benign |
| rs780992085 | 15:66,995,659 | C/T | — | likely benign |
| rs1177095621 | 15:66,995,661 | G/A | — | uncertain significance |
| rs1370564947 | 15:66,995,663 | G/A | — | uncertain significance |
| rs752328938 | 15:66,995,667 | A/G | — | uncertain significance |
| rs922540858 | 15:66,995,668 | A/G | — | likely benign |
| rs755856670 | 15:66,995,671 | C/T | — | likely benign |
| rs374058045 | 15:66,995,675 | A/G | — | likely benign |
| rs1448725205 | 15:66,995,676 | G/A | — | uncertain significance |
| rs1167279905 | 15:66,995,677 | C/T | — | likely benign |
| rs868114319 | 15:66,995,678 | G/A | — | uncertain significance |
| rs891756627 | 15:66,995,680 | C/T | — | likely benign |
| rs2545310486 | 15:66,995,681 | G/A | — | uncertain significance |
| rs1411192932 | 15:66,995,682 | G/C | — | likely pathogenic |
| rs1567091237 | 15:66,995,685 | G/C | — | uncertain significance |
| rs770362322 | 15:66,995,687 | G/A | — | uncertain significance |
| rs780659575 | 15:66,995,689 | T/C | — | likely benign |
| rs769111756 | 15:66,995,693 | G/T | — | uncertain significance |
| rs1893020145 | 15:66,995,695 | C/T | — | likely benign |
| rs1197212804 | 15:66,995,698 | C/T | — | likely benign |
| rs770119498 | 15:66,995,700 | A/G | — | uncertain significance |
| rs1187856920 | 15:66,995,701 | G/A | — | likely benign |
| rs773308777 | 15:66,995,702 | G/A | — | uncertain significance |
| rs763029325 | 15:66,995,703 | A/G | — | uncertain significance |
| rs1168333144 | 15:66,995,710 | C/G | — | uncertain significance |
| rs1399232349 | 15:66,995,711 | T/G | — | uncertain significance |
| rs149612008 | 15:66,995,716 | C/A | — | likely benign |
| rs1447391811 | 15:66,995,720 | C/T | — | conflicting classifications of pathogenicity |
| rs1270837180 | 15:66,995,721 | G/A | — | uncertain significance |
| rs1342993506 | 15:66,995,723 | G/C | — | uncertain significance |
| rs1027280912 | 15:66,995,730 | C/G | — | uncertain significance |
| rs868172579 | 15:66,995,731 | G/C | — | likely benign |
| rs2140580758 | 15:66,995,733 | C/T | — | uncertain significance |
| rs368960350 | 15:66,995,735 | C/T | — | likely benign |
| rs1438458864 | 15:66,995,736 | C/T | — | uncertain significance |
| rs1004603974 | 15:66,995,737 | G/A | — | likely benign |
| rs1595756495 | 15:66,995,738 | C/T | — | uncertain significance |
| rs2140580772 | 15:66,995,740 | G/A | — | likely benign |
| rs2545310742 | 15:66,995,741 | G/C | — | uncertain significance |
| rs1893022542 | 15:66,995,744 | A/T | — | uncertain significance |
| rs752608306 | 15:66,995,749 | G/C | — | uncertain significance |
| rs1325349483 | 15:66,995,753 | G/T | — | likely pathogenic |
| rs955270050 | 15:66,995,754 | G/A | — | uncertain significance |
| rs2545310790 | 15:66,995,757 | G/T | — | uncertain significance |
| rs755868380 | 15:66,995,761 | C/A | — | pathogenic |
| rs2545310808 | 15:66,995,762 | G/A | — | uncertain significance |
| rs985362055 | 15:66,995,764 | C/T | — | likely benign |
| rs777427936 | 15:66,995,765 | C/A | — | uncertain significance |
| rs1428295015 | 15:66,995,766 | G/T | — | uncertain significance |
| rs753456441 | 15:66,995,767 | C/G | — | likely benign |
| rs2545310829 | 15:66,995,768 | T/C | — | uncertain significance |
| rs756752655 | 15:66,995,769 | C/G | — | conflicting classifications of pathogenicity |
| rs1298929102 | 15:66,995,774 | G/A | — | uncertain significance |
| rs981335329 | 15:66,995,776 | C/G | — | likely benign |
| rs1306731976 | 15:66,995,778 | G/C | — | uncertain significance |
| rs1595756583 | 15:66,995,783 | G/A | — | uncertain significance |
| rs1242699041 | 15:66,995,788 | C/T | — | likely benign |
| rs1476099931 | 15:66,995,789 | C/T | — | uncertain significance |
| rs990598927 | 15:66,995,790 | C/G | — | uncertain significance |
| rs1393989883 | 15:66,995,791 | G/A | — | likely benign |
| rs1893024612 | 15:66,995,793 | G/A | — | uncertain significance |
| rs2545310900 | 15:66,995,794 | G/C | — | likely benign |
| rs2545310907 | 15:66,995,795 | C/T | — | uncertain significance |
| rs2140580891 | 15:66,995,797 | G/A | — | likely benign |
| rs1235974469 | 15:66,995,798 | C/T | — | uncertain significance |
| rs913314879 | 15:66,995,800 | C/T | — | likely benign |
Showing 100 of 695 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.