rs772180415
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8.8 | Tay-Sachs disease (predicted) |
| (A;C) | 3 | Carrier of a Tay-Sachs mutation |
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Tay-Sachs mutation |
| (T;T) | 8.8 | Tay-Sachs disease (predicted) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 72349101 |
| Gene | HEXA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs772180415 |
| dbSNP (classic) | rs772180415 |
| ClinGen | rs772180415 |
| ebi | rs772180415 |
| HLI | rs772180415 |
| Exac | rs772180415 |
| Gnomad | rs772180415 |
| Varsome | rs772180415 |
| LitVar | rs772180415 |
| Map | rs772180415 |
| PheGenI | rs772180415 |
| Biobank | rs772180415 |
| 1000 genomes | rs772180415 |
| hgdp | rs772180415 |
| ensembl | rs772180415 |
| geneview | rs772180415 |
| scholar | rs772180415 |
| rs772180415 | |
| pharmgkb | rs772180415 |
| gwascentral | rs772180415 |
| openSNP | rs772180415 |
| 23andMe | rs772180415 |
| SNPshot | rs772180415 |
| SNPdbe | rs772180415 |
| MSV3d | rs772180415 |
| GWAS Ctlg | rs772180415 |
| Max Magnitude | 8.8 |
| ClinVar | |
|---|---|
| Risk | Rs772180415(A;A) Rs772180415(T;T) |
| Alt | Rs772180415(A;A) Rs772180415(T;T) |
| Reference | Rs772180415(C;C) |
| Significance | Other |
| Disease | Tay-Sachs disease |
| Variation | info |
| Gene | HEXA |
| CLNDBN | Tay-Sachs disease |
| Reversed | 0 |
| HGVS | NC_000015.9:g.72641442C>A; NC_000015.9:g.72641442C>T |
| CLNSRC | |
| CLNACC | RCV000207019.1, RCV000207246.1, |
