rs121907978
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8.8 | Tay-Sachs disease (predicted) |
| (A;G) | 3 | Carrier of a Tay-Sachs mutation |
| (C;C) | 8.8 | Tay-Sachs disease (predicted) |
| (C;G) | 3 | Carrier of a Tay-Sachs mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 72346296 |
| Gene | HEXA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121907978 |
| dbSNP (classic) | rs121907978 |
| ClinGen | rs121907978 |
| ebi | rs121907978 |
| HLI | rs121907978 |
| Exac | rs121907978 |
| Gnomad | rs121907978 |
| Varsome | rs121907978 |
| LitVar | rs121907978 |
| Map | rs121907978 |
| PheGenI | rs121907978 |
| Biobank | rs121907978 |
| 1000 genomes | rs121907978 |
| hgdp | rs121907978 |
| ensembl | rs121907978 |
| geneview | rs121907978 |
| scholar | rs121907978 |
| rs121907978 | |
| pharmgkb | rs121907978 |
| gwascentral | rs121907978 |
| openSNP | rs121907978 |
| 23andMe | rs121907978 |
| SNPshot | rs121907978 |
| SNPdbe | rs121907978 |
| MSV3d | rs121907978 |
| GWAS Ctlg | rs121907978 |
| Max Magnitude | 8.8 |
23andMe name: i5004848
| ClinVar | |
|---|---|
| Risk | Rs121907978(A;A) Rs121907978(C;C) |
| Alt | Rs121907978(A;A) Rs121907978(C;C) |
| Reference | Rs121907978(G;G) |
| Significance | Pathogenic |
| Disease | Tay-Sachs disease |
| Variation | info |
| Gene | HEXA |
| CLNDBN | Tay-Sachs disease |
| Reversed | 1 |
| HGVS | NC_000015.9:g.72638637C>G; NC_000015.9:g.72638637C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000416429.1, RCV000004140.2, |
