rs199476371
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TC;TC) | 0 | common in clinvar |
| Make rs199476371(CT;CT) |
| Make rs199476371(CT;TC) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 50627338 |
| Gene | ARSA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199476371 |
| dbSNP (classic) | rs199476371 |
| ClinGen | rs199476371 |
| ebi | rs199476371 |
| HLI | rs199476371 |
| Exac | rs199476371 |
| Gnomad | rs199476371 |
| Varsome | rs199476371 |
| LitVar | rs199476371 |
| Map | rs199476371 |
| PheGenI | rs199476371 |
| Biobank | rs199476371 |
| 1000 genomes | rs199476371 |
| hgdp | rs199476371 |
| ensembl | rs199476371 |
| geneview | rs199476371 |
| scholar | rs199476371 |
| rs199476371 | |
| pharmgkb | rs199476371 |
| gwascentral | rs199476371 |
| openSNP | rs199476371 |
| 23andMe | rs199476371 |
| SNPshot | rs199476371 |
| SNPdbe | rs199476371 |
| MSV3d | rs199476371 |
| GWAS Ctlg | rs199476371 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199476371(CT;CT) |
| Alt | rs199476371(CT;CT) |
| Reference | Rs199476371(TC;TC) |
| Significance | Pathogenic |
| Disease | Metachromatic leukodystrophy not provided |
| Variation | info |
| Gene | ARSA |
| CLNDBN | Metachromatic leukodystrophy, severe not provided |
| Reversed | 1 |
| HGVS | NC_000022.10:g.51065766_51065767delGAinsAG |
| CLNSRC | OMIM Allelic Variant UniProtKB (variants) |
| CLNACC | RCV000003208.3, RCV000058959.1, |
[PMID 7825603
] Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.
