rs138058578
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | likely to lead to a false positive blood test for Tay Sachs |
| (A;G) | 2 | likely to lead to a false positive blood test for Tay Sachs |
| (G;G) | 0 | common/normal |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 72350578 |
| Gene | HEXA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138058578 |
| dbSNP (classic) | rs138058578 |
| ClinGen | rs138058578 |
| ebi | rs138058578 |
| HLI | rs138058578 |
| Exac | rs138058578 |
| Gnomad | rs138058578 |
| Varsome | rs138058578 |
| LitVar | rs138058578 |
| Map | rs138058578 |
| PheGenI | rs138058578 |
| Biobank | rs138058578 |
| 1000 genomes | rs138058578 |
| hgdp | rs138058578 |
| ensembl | rs138058578 |
| geneview | rs138058578 |
| scholar | rs138058578 |
| rs138058578 | |
| pharmgkb | rs138058578 |
| gwascentral | rs138058578 |
| openSNP | rs138058578 |
| 23andMe | rs138058578 |
| SNPshot | rs138058578 |
| SNPdbe | rs138058578 |
| MSV3d | rs138058578 |
| GWAS Ctlg | rs138058578 |
| Max Magnitude | 2 |
This SNP is associated with a change in the protein encoded by the HEXA gene, which leads to a false positive blood test for Tay-Sachs Disease. In other words, the blood test from an individual with a rs138058578(A) allele will indicate the person is a carrier for Tay Sachs disease, even though this SNP is not actually one that leads to the disease. Note however that the person may still carry (on their other chromosome 15) a "true" Tay Sachs causing allele.
| ClinVar | |
|---|---|
| Risk | Rs138058578(A;A) |
| Alt | Rs138058578(A;A) |
| Reference | Rs138058578(G;G) |
| Significance | Other |
| Disease | Tay-Sachs disease not provided |
| Variation | info |
| Gene | HEXA |
| CLNDBN | Tay-Sachs disease not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.72642919G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000190592.1, RCV000375852.1, |
