SPON1
spondin 1
Summary
Predicted to enable LBD domain binding activity and metal ion binding activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in cell adhesion. Predicted to act upstream of or within negative regulation of amyloid-beta formation; positive regulation of amyloid precursor protein catabolic process; and positive regulation of protein processing. Located in collagen-containing extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1554907631 | 11:13,984,483 | G/A | — | uncertain significance |
| rs1847985182 | 11:13,984,489 | C/T | — | uncertain significance |
| rs782464048 | 11:13,984,525 | C/T | — | likely benign |
| rs373585962 | 11:13,984,551 | C/G | — | uncertain significance |
| rs1554907668 | 11:13,984,576 | G/A | — | uncertain significance |
| rs2500482934 | 11:13,984,582 | G/A | — | uncertain significance |
| rs3761859 | 11:13,984,583 | C/T | — | benign |
| rs1441191044 | 11:13,984,590 | A/G | — | uncertain significance |
| rs781900983 | 11:13,984,599 | G/A | — | uncertain significance |
| rs782705875 | 11:13,984,603 | A/G | — | uncertain significance |
| rs1554907680 | 11:13,984,611 | C/T | — | uncertain significance |
| rs367580081 | 11:13,984,641 | C/T | — | uncertain significance |
| rs782539305 | 11:13,984,655 | C/A | — | uncertain significance |
| rs2500483302 | 11:13,984,683 | T/A | — | uncertain significance |
| rs10741631 | 11:13,984,720 | A/C | regulatory region variant | — |
| rs1819084 | 11:13,996,155 | C/A | intron variant | — |
| rs571618690 | 11:13,996,822 | A/C | — | — |
| rs1021919261 | 11:14,004,417 | T/A | — | uncertain significance |
| rs781945559 | 11:14,004,426 | A/G | — | uncertain significance |
| rs781827806 | 11:14,004,450 | A/G | — | uncertain significance |
| rs2618516 | 11:14,021,639 | T/G | — | — |
| rs10500790 | 11:14,036,189 | G/A | intron variant | — |
| rs10832155 | 11:14,036,234 | G/A | intron variant | — |
| rs11023056 | 11:14,052,119 | A/G | regulatory region variant | — |
| rs61884835 | 11:14,052,348 | T/A | — | — |
| rs564301907 | 11:14,063,113 | G/A | — | uncertain significance |
| rs1554917274 | 11:14,063,119 | A/T | — | uncertain significance |
| rs1247881041 | 11:14,063,183 | C/T | — | uncertain significance |
| rs10832169 | 11:14,066,486 | G/T | — | — |
| rs10832170 | 11:14,066,549 | A/T | intron variant | — |
| rs2403709 | 11:14,072,538 | C/A | — | — |
| rs191379475 | 11:14,075,712 | G/A | intron variant | — |
| rs2697825 | 11:14,089,431 | A/G | regulatory region variant | — |
| rs750642710 | 11:14,096,902 | G/A | — | uncertain significance |
| rs1554921322 | 11:14,096,914 | A/G | — | uncertain significance |
| rs782299069 | 11:14,096,923 | T/A | — | uncertain significance |
| rs17556665 | 11:14,098,482 | G/T | intron variant | — |
| rs561089663 | 11:14,100,539 | G/C | — | — |
| rs2493887734 | 11:14,101,538 | C/T | — | uncertain significance |
| rs2493887768 | 11:14,101,552 | C/T | — | uncertain significance |
| rs11023088 | 11:14,119,101 | T/C | intron variant | — |
| rs11023100 | 11:14,160,504 | G/C | — | — |
| rs11606345 | 11:14,218,697 | T/C | intron variant | — |
| rs11023139 | 11:14,224,346 | G/A | intron variant | — |
| rs11023147 | 11:14,238,781 | G/A | intron variant | — |
| rs11023160 | 11:14,264,225 | T/C | — | — |
| rs2494052295 | 11:14,264,902 | A/C | — | uncertain significance |
| rs2494052312 | 11:14,264,906 | C/T | — | uncertain significance |
| rs1346313776 | 11:14,280,940 | C/T | — | uncertain significance |
| rs782664144 | 11:14,281,139 | G/T | — | uncertain significance |
| rs2494070658 | 11:14,281,144 | G/A | — | uncertain significance |
| rs2494075976 | 11:14,284,258 | C/A | — | uncertain significance |
| rs1554942068 | 11:14,284,460 | G/T | — | uncertain significance |
| rs11369 | 11:14,288,096 | A/G | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.