rs398123217
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Carrier of a Fabry disease mutation; X-linked so risk is to sons |
| (G;G) | 6 | Fabry disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 101398939 |
| Gene | GLA, RPL36A-HNRNPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123217 |
| dbSNP (classic) | rs398123217 |
| ClinGen | rs398123217 |
| ebi | rs398123217 |
| HLI | rs398123217 |
| Exac | rs398123217 |
| Gnomad | rs398123217 |
| Varsome | rs398123217 |
| LitVar | rs398123217 |
| Map | rs398123217 |
| PheGenI | rs398123217 |
| Biobank | rs398123217 |
| 1000 genomes | rs398123217 |
| hgdp | rs398123217 |
| ensembl | rs398123217 |
| geneview | rs398123217 |
| scholar | rs398123217 |
| rs398123217 | |
| pharmgkb | rs398123217 |
| gwascentral | rs398123217 |
| openSNP | rs398123217 |
| 23andMe | rs398123217 |
| SNPshot | rs398123217 |
| SNPdbe | rs398123217 |
| MSV3d | rs398123217 |
| GWAS Ctlg | rs398123217 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | Rs398123217(G;G) |
| Alt | Rs398123217(G;G) |
| Reference | Rs398123217(A;A) |
| Significance | Pathogenic |
| Disease | Fabry disease |
| Variation | info |
| Gene | RPL36A-HNRNPH2 GLA |
| CLNDBN | Fabry disease |
| Reversed | 1 |
| HGVS | NC_000023.10:g.100653927T>C |
| CLNSRC | HGMD |
| CLNACC | RCV000078290.6, |
