rs28942071
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier for a Tay-Sachs mutation |
| (T;T) | 8.8 | Tay-Sachs disease (predicted) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 72345462 |
| Gene | HEXA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28942071 |
| dbSNP (classic) | rs28942071 |
| ClinGen | rs28942071 |
| ebi | rs28942071 |
| HLI | rs28942071 |
| Exac | rs28942071 |
| Gnomad | rs28942071 |
| Varsome | rs28942071 |
| LitVar | rs28942071 |
| Map | rs28942071 |
| PheGenI | rs28942071 |
| Biobank | rs28942071 |
| 1000 genomes | rs28942071 |
| hgdp | rs28942071 |
| ensembl | rs28942071 |
| geneview | rs28942071 |
| scholar | rs28942071 |
| rs28942071 | |
| pharmgkb | rs28942071 |
| gwascentral | rs28942071 |
| openSNP | rs28942071 |
| 23andMe | rs28942071 |
| SNPshot | rs28942071 |
| SNPdbe | rs28942071 |
| MSV3d | rs28942071 |
| GWAS Ctlg | rs28942071 |
| Max Magnitude | 8.8 |
rs28942071, also known as c.1510C>T, p.Arg504Cys and R504C, represents a variant in the HEXA gene on chromosome 15.
The rs28942071(T) allele represents a mutation that, when inherited recessively, is considered likely to lead to Tay-Sachs disease. This allele may be among the most common Tay-Sachs mutations in non-Ashkenazi European populations.[PMID 24498621
]
23andMe name: i5000085
| ClinVar | |
|---|---|
| Risk | Rs28942071(T;T) |
| Alt | Rs28942071(T;T) |
| Reference | Rs28942071(C;C) |
| Significance | Pathogenic |
| Disease | Gm2-gangliosidosis Tay-Sachs disease |
| Variation | info |
| Gene | HEXA |
| CLNDBN | Gm2-gangliosidosis, chronic Tay-Sachs disease |
| Reversed | 1 |
| HGVS | NC_000015.9:g.72637803G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004112.2, RCV000169084.1, |
