rs28941770
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 |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a Tay-Sachs mutation |
| (T;T) | 8.8 | Tay-Sachs disease (predicted) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 15 |
| Position | 72353105 |
| Gene | HEXA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28941770 |
| dbSNP (classic) | rs28941770 |
| ClinGen | rs28941770 |
| ebi | rs28941770 |
| HLI | rs28941770 |
| Exac | rs28941770 |
| Gnomad | rs28941770 |
| Varsome | rs28941770 |
| LitVar | rs28941770 |
| Map | rs28941770 |
| PheGenI | rs28941770 |
| Biobank | rs28941770 |
| 1000 genomes | rs28941770 |
| hgdp | rs28941770 |
| ensembl | rs28941770 |
| geneview | rs28941770 |
| scholar | rs28941770 |
| rs28941770 | |
| pharmgkb | rs28941770 |
| gwascentral | rs28941770 |
| openSNP | rs28941770 |
| 23andMe | rs28941770 |
| SNPshot | rs28941770 |
| SNPdbe | rs28941770 |
| MSV3d | rs28941770 |
| GWAS Ctlg | rs28941770 |
| Max Magnitude | 8.8 |
aka c.533G>T (p.Arg178Leu) and also c.533G>A (p.Arg178His)
23andMe name for the c.533G>A variant: i5012799
| OMIM | 606869 |
| Desc | Tay-Sachs disease |
| Variant | 0024 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | Rs28941770(A;A) rs28941770(C;C) Rs28941770(T;T) |
| Alt | Rs28941770(A;A) rs28941770(C;C) Rs28941770(T;T) |
| Reference | Rs28941770(G;G) |
| Significance | Pathogenic |
| Disease | Tay-Sachs disease Tay-Sachs disease Hexa not provided |
| Variation | info |
| Gene | HEXA |
| CLNDBN | Tay-Sachs disease Tay-Sachs disease, B1 variant Hexa, dn allele not provided |
| Reversed | 1 |
| HGVS | NC_000015.9:g.72645446C>A; NC_000015.9:g.72645446C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004118.2, RCV000004100.3, RCV000004101.3, RCV000396083.1, RCV000409508.1, |
