rs148748724
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs148748724(A;A) |
| Make rs148748724(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 7526607 |
| Gene | LOC105372261, MCOLN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148748724 |
| dbSNP (classic) | rs148748724 |
| ClinGen | rs148748724 |
| ebi | rs148748724 |
| HLI | rs148748724 |
| Exac | rs148748724 |
| Gnomad | rs148748724 |
| Varsome | rs148748724 |
| LitVar | rs148748724 |
| Map | rs148748724 |
| PheGenI | rs148748724 |
| Biobank | rs148748724 |
| 1000 genomes | rs148748724 |
| hgdp | rs148748724 |
| ensembl | rs148748724 |
| geneview | rs148748724 |
| scholar | rs148748724 |
| rs148748724 | |
| pharmgkb | rs148748724 |
| gwascentral | rs148748724 |
| openSNP | rs148748724 |
| 23andMe | rs148748724 |
| SNPshot | rs148748724 |
| SNPdbe | rs148748724 |
| MSV3d | rs148748724 |
| GWAS Ctlg | rs148748724 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148748724(A;A) |
| Alt | rs148748724(A;A) |
| Reference | Rs148748724(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | MCOLN1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.7591493G>A |
| CLNSRC | |
| CLNACC | RCV000485641.1, |
