rs137852846
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a multiple sulfatase deficiency mutation |
| Make rs137852846(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 4362224 |
| Gene | SUMF1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852846 |
| dbSNP (classic) | rs137852846 |
| ClinGen | rs137852846 |
| ebi | rs137852846 |
| HLI | rs137852846 |
| Exac | rs137852846 |
| Gnomad | rs137852846 |
| Varsome | rs137852846 |
| LitVar | rs137852846 |
| Map | rs137852846 |
| PheGenI | rs137852846 |
| Biobank | rs137852846 |
| 1000 genomes | rs137852846 |
| hgdp | rs137852846 |
| ensembl | rs137852846 |
| geneview | rs137852846 |
| scholar | rs137852846 |
| rs137852846 | |
| pharmgkb | rs137852846 |
| gwascentral | rs137852846 |
| openSNP | rs137852846 |
| 23andMe | rs137852846 |
| SNPshot | rs137852846 |
| SNPdbe | rs137852846 |
| MSV3d | rs137852846 |
| GWAS Ctlg | rs137852846 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs137852846(T;T) |
| Alt | rs137852846(T;T) |
| Reference | Rs137852846(C;C) |
| Significance | Pathogenic |
| Disease | Multiple sulfatase deficiency |
| Variation | info |
| Gene | SUMF1 |
| CLNDBN | Multiple sulfatase deficiency |
| Reversed | 1 |
| HGVS | NC_000003.11:g.4403908G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002785.3, |
