rs987036804
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a Tay-Sachs mutation |
| (T;T) | 8.8 | Tay-Sachs disease (predicted) |
| Make rs987036804(A;A) |
| Make rs987036804(A;C) |
| Make rs987036804(C;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 72375818 |
| Gene | HEXA, HEXA-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs987036804 |
| dbSNP (classic) | rs987036804 |
| ClinGen | rs987036804 |
| ebi | rs987036804 |
| HLI | rs987036804 |
| Exac | rs987036804 |
| Gnomad | rs987036804 |
| Varsome | rs987036804 |
| LitVar | rs987036804 |
| Map | rs987036804 |
| PheGenI | rs987036804 |
| Biobank | rs987036804 |
| 1000 genomes | rs987036804 |
| hgdp | rs987036804 |
| ensembl | rs987036804 |
| geneview | rs987036804 |
| scholar | rs987036804 |
| rs987036804 | |
| pharmgkb | rs987036804 |
| gwascentral | rs987036804 |
| openSNP | rs987036804 |
| 23andMe | rs987036804 |
| SNPshot | rs987036804 |
| SNPdbe | rs987036804 |
| MSV3d | rs987036804 |
| GWAS Ctlg | rs987036804 |
| Max Magnitude | 8.8 |
| ClinVar | |
|---|---|
| Risk | Rs987036804(T;T) |
| Alt | Rs987036804(T;T) |
| Reference | Rs987036804(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | HEXA-AS1 HEXA |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.72668159G>T |
| CLNSRC | |
| CLNACC | RCV000430851.1, |
