rs104894847
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 6 | Fabry disease |
| (C;G) | 3 | Carrier of a Fabry disease mutation; X-linked so risk is to sons |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 101407846 |
| Gene | GLA, HNRNPH2, RPL36A-HNRNPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894847 |
| dbSNP (classic) | rs104894847 |
| ClinGen | rs104894847 |
| ebi | rs104894847 |
| HLI | rs104894847 |
| Exac | rs104894847 |
| Gnomad | rs104894847 |
| Varsome | rs104894847 |
| LitVar | rs104894847 |
| Map | rs104894847 |
| PheGenI | rs104894847 |
| Biobank | rs104894847 |
| 1000 genomes | rs104894847 |
| hgdp | rs104894847 |
| ensembl | rs104894847 |
| geneview | rs104894847 |
| scholar | rs104894847 |
| rs104894847 | |
| pharmgkb | rs104894847 |
| gwascentral | rs104894847 |
| openSNP | rs104894847 |
| 23andMe | rs104894847 |
| SNPshot | rs104894847 |
| SNPdbe | rs104894847 |
| MSV3d | rs104894847 |
| GWAS Ctlg | rs104894847 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | Rs104894847(C;C) |
| Alt | Rs104894847(C;C) |
| Reference | Rs104894847(G;G) |
| Significance | Pathogenic |
| Disease | Fabry disease |
| Variation | info |
| Gene | HNRNPH2 RPL36A-HNRNPH2 GLA |
| CLNDBN | Fabry disease, cardiac variant |
| Reversed | 1 |
| HGVS | NC_000023.10:g.100662834C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000011511.2, |
