HSPG2
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | HSPG2 |
| GeneCards | HSPG2 |
| Diseases | HSPG2 |
| wikipedia | HSPG2 |
| HSPG2 | |
| gopubmed | HSPG2 |
| EVS | HSPG2 |
| HEFalMp | HSPG2 |
| MyGene2 | HSPG2 |
| 23andMe | HSPG2 |
| # SNPs | 21 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1064795546 | 0 | 21,881,369 | |
| rs137853248 | 7.8 | 21,864,874 | |
| rs1874792 | 0 | 21,880,742 | |
| rs2228349 | 0 | 21,841,112 | |
| rs2229475 | 0 | 21,855,402 | |
| rs2229489 | 0 | 21,842,352 | |
| rs2229491 | 0 | 21,842,308 | |
| rs2229493 | 0 | 21,833,550 | |
| rs2445142 | 0 | 21,899,250 | |
| rs35669711 | 0 | 21,852,751 | |
| rs3736360 | 0 | 21,823,627 | |
| rs3767137 | 0 | 21,834,230 | |
| rs6701253 | 0 | 21,841,112 | |
| rs745452577 | 1 | 21,865,798 | |
| rs762281715 | 7.8 | 21,833,551 | |
| rs778653296 | 7.8 | 21,851,790 | |
| rs878949 | 0 | 21,900,598 | |
| rs886039909 | 7.8 | 21,864,095 | |
| rs886041667 | 7.8 | 21,880,518 | |
| rs897471 | 0 | 21,864,961 | |
| rs989994 | 0 | 21,880,156 |
The HSPG2 gene provides instructions for making a protein called perlecan.
Recessively inherited mutations in the HSPG2 gene may lead to Schwartz Jampel syndrome type 1, a rare condition is characterized by continuous muscle contraction (myotonia) that restricts movement, as well as bone abnormalities known as chondrodysplasia.GHR
