rs28937590
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | carrier for a GRACILE syndrome mutation |
| (G;G) | 8 | GRACILE syndrome |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 218661219 |
| Gene | BCS1L, ZNF142 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937590 |
| dbSNP (classic) | rs28937590 |
| ClinGen | rs28937590 |
| ebi | rs28937590 |
| HLI | rs28937590 |
| Exac | rs28937590 |
| Gnomad | rs28937590 |
| Varsome | rs28937590 |
| LitVar | rs28937590 |
| Map | rs28937590 |
| PheGenI | rs28937590 |
| Biobank | rs28937590 |
| 1000 genomes | rs28937590 |
| hgdp | rs28937590 |
| ensembl | rs28937590 |
| geneview | rs28937590 |
| scholar | rs28937590 |
| rs28937590 | |
| pharmgkb | rs28937590 |
| gwascentral | rs28937590 |
| openSNP | rs28937590 |
| 23andMe | rs28937590 |
| SNPshot | rs28937590 |
| SNPdbe | rs28937590 |
| MSV3d | rs28937590 |
| GWAS Ctlg | rs28937590 |
| GMAF | 0.0 |
| Max Magnitude | 8 |
rs28937590, also known as Ser78Gly or S78G, is a SNP in the BC1 (ubiquinol-cytochrome c reductase) synthesis-like BCS1L gene.
The rare rs28937590(G) allele which is (when present in two copies) causative for GRACILE syndrome is thought to be a founder mutation found primarily in those of Finnish ancestry.
23andMe reports on this SNP under the term i5012660.
| ClinVar | |
|---|---|
| Risk | Rs28937590(G;G) |
| Alt | Rs28937590(G;G) |
| Reference | Rs28937590(A;A) |
| Significance | Pathogenic |
| Disease | GRACILE syndrome |
| Variation | info |
| Gene | ZNF142 BCS1L |
| CLNDBN | GRACILE syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.219525942A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006542.4, |
