rs137853248
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 7.8 | Schwartz Jampel syndrome type 1 |
| (A;G) | 3 | Carrier for a Schwartz Jampel syndrome mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 21864874 |
| Gene | HSPG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853248 |
| dbSNP (classic) | rs137853248 |
| ClinGen | rs137853248 |
| ebi | rs137853248 |
| HLI | rs137853248 |
| Exac | rs137853248 |
| Gnomad | rs137853248 |
| Varsome | rs137853248 |
| LitVar | rs137853248 |
| Map | rs137853248 |
| PheGenI | rs137853248 |
| Biobank | rs137853248 |
| 1000 genomes | rs137853248 |
| hgdp | rs137853248 |
| ensembl | rs137853248 |
| geneview | rs137853248 |
| scholar | rs137853248 |
| rs137853248 | |
| pharmgkb | rs137853248 |
| gwascentral | rs137853248 |
| openSNP | rs137853248 |
| 23andMe | rs137853248 |
| SNPshot | rs137853248 |
| SNPdbe | rs137853248 |
| MSV3d | rs137853248 |
| GWAS Ctlg | rs137853248 |
| Max Magnitude | 7.8 |
aka c.4595G>A, p.Cys1532Tyr and C1532Y
OMIM cites a paper stating this mutation as leading to (recessively inherited) Schwartz Jampel syndrome type 1, however, note the mention of a subsequent paper questioning whether there was an additional cause.
| ClinVar | |
|---|---|
| Risk | Rs137853248(A;A) |
| Alt | Rs137853248(A;A) |
| Reference | Rs137853248(G;G) |
| Significance | Pathogenic |
| Disease | Schwartz Jampel syndrome type 1 |
| Variation | info |
| Gene | HSPG2 |
| CLNDBN | Schwartz Jampel syndrome type 1 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.22191367C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016053.22, |
