rs76173977
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Tay-Sachs mutation |
| (T;T) | 8.8 | Tay-Sachs disease |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 72348047 |
| Gene | HEXA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76173977 |
| dbSNP (classic) | rs76173977 |
| ClinGen | rs76173977 |
| ebi | rs76173977 |
| HLI | rs76173977 |
| Exac | rs76173977 |
| Gnomad | rs76173977 |
| Varsome | rs76173977 |
| LitVar | rs76173977 |
| Map | rs76173977 |
| PheGenI | rs76173977 |
| Biobank | rs76173977 |
| 1000 genomes | rs76173977 |
| hgdp | rs76173977 |
| ensembl | rs76173977 |
| geneview | rs76173977 |
| scholar | rs76173977 |
| rs76173977 | |
| pharmgkb | rs76173977 |
| gwascentral | rs76173977 |
| openSNP | rs76173977 |
| 23andMe | rs76173977 |
| SNPshot | rs76173977 |
| SNPdbe | rs76173977 |
| MSV3d | rs76173977 |
| GWAS Ctlg | rs76173977 |
| Max Magnitude | 8.8 |
rs76173977 is a mutation in the 9th intron (IVS9) of the HEXA gene, and it has been reported as one of the more common mutations seen in non-Jewish Caucasians which can lead to Tay-Sachs disease when present in two copies or when combined with another Tay-Sachs mutation.
The best write-up of this mutation is found in OMIM.
aka c.1073+1G>A
Note that 23andMe refers to this SNP as i4000438.
| ClinVar | |
|---|---|
| Risk | Rs76173977(T;T) |
| Alt | Rs76173977(T;T) |
| Reference | Rs76173977(C;C) |
| Significance | Pathogenic |
| Disease | Tay-Sachs disease not provided |
| Variation | info |
| Gene | HEXA |
| CLNDBN | Tay-Sachs disease not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.72640388C>T |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000004126.3, RCV000079047.5, |
