rs797044830
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TC;TC) | 0 | common in clinvar |
| Make rs797044830(-;-) |
| Make rs797044830(-;TC) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 19 |
| Position | 7526503 |
| Gene | LOC105372261, MCOLN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs797044830 |
| dbSNP (classic) | rs797044830 |
| ClinGen | rs797044830 |
| ebi | rs797044830 |
| HLI | rs797044830 |
| Exac | rs797044830 |
| Gnomad | rs797044830 |
| Varsome | rs797044830 |
| LitVar | rs797044830 |
| Map | rs797044830 |
| PheGenI | rs797044830 |
| Biobank | rs797044830 |
| 1000 genomes | rs797044830 |
| hgdp | rs797044830 |
| ensembl | rs797044830 |
| geneview | rs797044830 |
| scholar | rs797044830 |
| rs797044830 | |
| pharmgkb | rs797044830 |
| gwascentral | rs797044830 |
| openSNP | rs797044830 |
| 23andMe | rs797044830 |
| SNPshot | rs797044830 |
| SNPdbe | rs797044830 |
| MSV3d | rs797044830 |
| GWAS Ctlg | rs797044830 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs797044830(-;-) |
| Alt | rs797044830(-;-) |
| Reference | Rs797044830(TC;TC) |
| Significance | Pathogenic |
| Disease | Ganglioside sialidase deficiency |
| Variation | info |
| Gene | MCOLN1 |
| CLNDBN | Ganglioside sialidase deficiency |
| Reversed | 0 |
| HGVS | NC_000019.9:g.7591389_7591390delTC |
| CLNSRC | |
| CLNACC | RCV000193619.1, |
