C1QTNF1
C1q and TNF related 1
Summary
Enables collagen binding activity. Involved in several processes, including negative regulation of platelet aggregation; positive regulation of aldosterone secretion; and positive regulation of cytosolic calcium ion concentration. Located in extracellular space and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181647086 | 17:77,018,710 | A/C | upstream gene variant | — |
| rs1287641888 | 17:77,040,082 | C/T | — | uncertain significance |
| rs759873307 | 17:77,040,106 | C/T | — | uncertain significance |
| rs763838151 | 17:77,040,126 | C/T | — | uncertain significance |
| rs753794387 | 17:77,040,127 | G/A | — | uncertain significance |
| rs569395527 | 17:77,040,149 | A/T | — | uncertain significance |
| rs760839700 | 17:77,040,184 | C/T | — | uncertain significance |
| rs375349048 | 17:77,040,201 | G/A | — | uncertain significance |
| rs779288561 | 17:77,042,674 | G/C | — | uncertain significance |
| rs566478936 | 17:77,042,695 | C/T | — | uncertain significance |
| rs554565794 | 17:77,042,737 | G/C | — | uncertain significance |
| rs758961252 | 17:77,042,743 | G/A | — | uncertain significance |
| rs868646611 | 17:77,043,622 | G/A | — | uncertain significance |
| rs776373086 | 17:77,043,634 | C/G | — | uncertain significance |
| rs1357582589 | 17:77,043,635 | G/A | — | uncertain significance |
| rs138383380 | 17:77,043,698 | C/T | — | uncertain significance |
| rs1263529947 | 17:77,043,751 | A/G | — | uncertain significance |
| rs34874100 | 17:77,043,759 | C/T | — | benign |
| rs747673561 | 17:77,043,806 | A/G | — | uncertain significance |
| rs370218119 | 17:77,043,815 | C/T | — | uncertain significance |
| rs777218254 | 17:77,043,825 | C/T | — | likely benign |
| rs2072628888 | 17:77,043,844 | C/G | — | uncertain significance |
| rs144829396 | 17:77,043,893 | C/G | — | uncertain significance |
| rs573762579 | 17:77,044,088 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.