rs80358246
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Make rs80358246(D;D) |
| Make rs80358246(D;I) |
| Make rs80358246(I;I) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 151645758 |
| Gene | NEB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80358246 |
| dbSNP (classic) | rs80358246 |
| ClinGen | rs80358246 |
| ebi | rs80358246 |
| HLI | rs80358246 |
| Exac | rs80358246 |
| Gnomad | rs80358246 |
| Varsome | rs80358246 |
| LitVar | rs80358246 |
| Map | rs80358246 |
| PheGenI | rs80358246 |
| Biobank | rs80358246 |
| 1000 genomes | rs80358246 |
| hgdp | rs80358246 |
| ensembl | rs80358246 |
| geneview | rs80358246 |
| scholar | rs80358246 |
| rs80358246 | |
| pharmgkb | rs80358246 |
| gwascentral | rs80358246 |
| openSNP | rs80358246 |
| 23andMe | rs80358246 |
| SNPshot | rs80358246 |
| SNPdbe | rs80358246 |
| MSV3d | rs80358246 |
| GWAS Ctlg | rs80358246 |
| Max Magnitude | 0 |
The absence of this SNP may be diagnostic for a 2,502bp deletion found at a (carrier) frequency of about 1 in 100 Ashkenazi Jews, and if so, it is associated with Nemaline myopathy (NEM2), a recessively inherited disorder.
[PMID 15221447] Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
