rs111422676
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Fabry disease |
| (A;G) | 3 | Carrier of a Fabry disease mutation; X-linked so risk is to sons |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | X |
| Position | 101398011 |
| Gene | GLA, RPL36A-HNRNPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111422676 |
| dbSNP (classic) | rs111422676 |
| ClinGen | rs111422676 |
| ebi | rs111422676 |
| HLI | rs111422676 |
| Exac | rs111422676 |
| Gnomad | rs111422676 |
| Varsome | rs111422676 |
| LitVar | rs111422676 |
| Map | rs111422676 |
| PheGenI | rs111422676 |
| Biobank | rs111422676 |
| 1000 genomes | rs111422676 |
| hgdp | rs111422676 |
| ensembl | rs111422676 |
| geneview | rs111422676 |
| scholar | rs111422676 |
| rs111422676 | |
| pharmgkb | rs111422676 |
| gwascentral | rs111422676 |
| openSNP | rs111422676 |
| 23andMe | rs111422676 |
| SNPshot | rs111422676 |
| SNPdbe | rs111422676 |
| MSV3d | rs111422676 |
| GWAS Ctlg | rs111422676 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | Rs111422676(A;A) |
| Alt | Rs111422676(A;A) |
| Reference | Rs111422676(G;G) |
| Significance | Pathogenic |
| Disease | Fabry disease |
| Variation | info |
| Gene | RPL36A-HNRNPH2 GLA |
| CLNDBN | Fabry disease |
| Reversed | 1 |
| HGVS | NC_000023.10:g.100652999C>T |
| CLNSRC | |
| CLNACC | RCV000398396.1, |
