RSPO3
R-spondin 3
Summary
This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138650988 | 6:127,439,893 | C/G | regulatory region variant | — |
| rs141783576 | 6:127,439,897 | G/T | — | — |
| rs577721086 | 6:127,440,047 | T/C | — | — |
| rs2482806181 | 6:127,440,362 | C/T | — | likely benign |
| rs140821794 | 6:127,440,383 | A/G | — | uncertain significance |
| rs184634289 | 6:127,441,345 | G/A | regulatory region variant | — |
| rs9482770 | 6:127,443,092 | T/G | — | — |
| rs1936807 | 6:127,448,249 | C/G | intron variant | — |
| rs1474696 | 6:127,449,246 | A/T | — | — |
| rs2745352 | 6:127,449,447 | A/G | intron variant | — |
| rs1967685 | 6:127,452,426 | C/T | — | — |
| rs9491696 | 6:127,452,639 | C/A | — | — |
| rs2186037 | 6:127,455,029 | A/G | intron variant | — |
| rs9491697 | 6:127,456,122 | A/T | — | — |
| rs2489625 | 6:127,458,308 | G/C | — | — |
| rs1892171 | 6:127,460,349 | G/T | — | — |
| rs7741021 | 6:127,468,274 | A/C | regulatory region variant | — |
| rs373793701 | 6:127,469,798 | C/A | — | uncertain significance |
| rs750152372 | 6:127,469,940 | G/A | — | uncertain significance |
| rs6932207 | 6:127,472,624 | G/A | intron variant | — |
| rs369318862 | 6:127,476,496 | C/T | — | uncertain significance |
| rs1936809 | 6:127,477,268 | T/A | — | — |
| rs7763784 | 6:127,489,818 | C/A | — | — |
| rs6569474 | 6:127,493,611 | A/T | intron variant | — |
| rs7745274 | 6:127,509,157 | G/C | — | — |
| rs1259430790 | 6:127,516,968 | G/C | — | uncertain significance |
| rs2482156029 | 6:127,517,022 | A/C | — | uncertain significance |
| rs369825184 | 6:127,517,087 | C/G | — | uncertain significance |
| rs374610234 | 6:127,517,103 | G/A | — | uncertain significance |
| rs750399787 | 6:127,517,127 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.