rs140329381
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs140329381(C;C) |
| Make rs140329381(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | X |
| Position | 101398504 |
| Gene | GLA, RPL36A-HNRNPH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140329381 |
| dbSNP (classic) | rs140329381 |
| ClinGen | rs140329381 |
| ebi | rs140329381 |
| HLI | rs140329381 |
| Exac | rs140329381 |
| Gnomad | rs140329381 |
| Varsome | rs140329381 |
| LitVar | rs140329381 |
| Map | rs140329381 |
| PheGenI | rs140329381 |
| Biobank | rs140329381 |
| 1000 genomes | rs140329381 |
| hgdp | rs140329381 |
| ensembl | rs140329381 |
| geneview | rs140329381 |
| scholar | rs140329381 |
| rs140329381 | |
| pharmgkb | rs140329381 |
| gwascentral | rs140329381 |
| openSNP | rs140329381 |
| 23andMe | rs140329381 |
| SNPshot | rs140329381 |
| SNPdbe | rs140329381 |
| MSV3d | rs140329381 |
| GWAS Ctlg | rs140329381 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140329381(A;A) rs140329381(C;C) |
| Alt | rs140329381(A;A) rs140329381(C;C) |
| Reference | Rs140329381(T;T) |
| Significance | Drug-response |
| Disease | Fabry disease Deoxygalactonojirimycin response not specified |
| Variation | info |
| Gene | RPL36A-HNRNPH2 GLA |
| CLNDBN | Fabry disease Deoxygalactonojirimycin response not specified |
| Reversed | 0 |
| HGVS | NC_000023.10:g.100653492T>A; NC_000023.10:g.100653492T>C |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000078299.5, RCV000209181.1, RCV000209743.1, RCV000236089.1, |
