rs121965022
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | Carrier of a mucopolysaccharidosis type 1 mutation |
| (C;C) | 0 | common in clinvar |
| Make rs121965022(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 987842 |
| Gene | IDUA, SLC26A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121965022 |
| dbSNP (classic) | rs121965022 |
| ClinGen | rs121965022 |
| ebi | rs121965022 |
| HLI | rs121965022 |
| Exac | rs121965022 |
| Gnomad | rs121965022 |
| Varsome | rs121965022 |
| LitVar | rs121965022 |
| Map | rs121965022 |
| PheGenI | rs121965022 |
| Biobank | rs121965022 |
| 1000 genomes | rs121965022 |
| hgdp | rs121965022 |
| ensembl | rs121965022 |
| geneview | rs121965022 |
| scholar | rs121965022 |
| rs121965022 | |
| pharmgkb | rs121965022 |
| gwascentral | rs121965022 |
| openSNP | rs121965022 |
| 23andMe | rs121965022 |
| SNPshot | rs121965022 |
| SNPdbe | rs121965022 |
| MSV3d | rs121965022 |
| GWAS Ctlg | rs121965022 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs121965022(A;A) rs121965022(T;T) |
| Alt | rs121965022(A;A) rs121965022(T;T) |
| Reference | Rs121965022(C;C) |
| Significance | Pathogenic |
| Disease | Hurler syndrome |
| Variation | info |
| Gene | SLC26A1 IDUA |
| CLNDBN | Hurler syndrome |
| Reversed | 0 |
| HGVS | NC_000004.11:g.981630C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012689.14, |
