rs758452450
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | Mucopolysaccharidosis type 1 |
| (A;G) | 3 | Carrier of a mucopolysaccharidosis type 1 mutation |
| (G;G) | 0 | common/normal |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 4 |
| Position | 987873 |
| Gene | IDUA, SLC26A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs758452450 |
| dbSNP (classic) | rs758452450 |
| ClinGen | rs758452450 |
| ebi | rs758452450 |
| HLI | rs758452450 |
| Exac | rs758452450 |
| Gnomad | rs758452450 |
| Varsome | rs758452450 |
| LitVar | rs758452450 |
| Map | rs758452450 |
| PheGenI | rs758452450 |
| Biobank | rs758452450 |
| 1000 genomes | rs758452450 |
| hgdp | rs758452450 |
| ensembl | rs758452450 |
| geneview | rs758452450 |
| scholar | rs758452450 |
| rs758452450 | |
| pharmgkb | rs758452450 |
| gwascentral | rs758452450 |
| openSNP | rs758452450 |
| 23andMe | rs758452450 |
| SNPshot | rs758452450 |
| SNPdbe | rs758452450 |
| MSV3d | rs758452450 |
| GWAS Ctlg | rs758452450 |
| Max Magnitude | 5 |
aka c.223G>A, p.Ala75Thr or A75T
reported in ClinVar as pathogenic for mucopolysaccharidosis type 1
| ClinVar | |
|---|---|
| Risk | Rs758452450(A;A) |
| Alt | Rs758452450(A;A) |
| Reference | Rs758452450(G;G) |
| Significance | Pathogenic |
| Disease | Mucopolysaccharidosis type I |
| Variation | info |
| Gene | SLC26A1 IDUA |
| CLNDBN | Mucopolysaccharidosis type I |
| Reversed | 0 |
| HGVS | NC_000004.11:g.981661G>A |
| CLNSRC | |
| CLNACC | RCV000208613.1, |
