rs483353013
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs483353013(A;G) |
| Make rs483353013(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 12 |
| Position | 57175646 |
| Gene | LRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs483353013 |
| dbSNP (classic) | rs483353013 |
| ClinGen | rs483353013 |
| ebi | rs483353013 |
| HLI | rs483353013 |
| Exac | rs483353013 |
| Gnomad | rs483353013 |
| Varsome | rs483353013 |
| LitVar | rs483353013 |
| Map | rs483353013 |
| PheGenI | rs483353013 |
| Biobank | rs483353013 |
| 1000 genomes | rs483353013 |
| hgdp | rs483353013 |
| ensembl | rs483353013 |
| geneview | rs483353013 |
| scholar | rs483353013 |
| rs483353013 | |
| pharmgkb | rs483353013 |
| gwascentral | rs483353013 |
| openSNP | rs483353013 |
| 23andMe | rs483353013 |
| SNPshot | rs483353013 |
| SNPdbe | rs483353013 |
| MSV3d | rs483353013 |
| GWAS Ctlg | rs483353013 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs483353013(C;C) rs483353013(G;G) |
| Alt | rs483353013(C;C) rs483353013(G;G) |
| Reference | Rs483353013(A;A) |
| Significance | Pathogenic |
| Disease | Atrophoderma vermiculatum Keratosis pilaris |
| Variation | info |
| Gene | LRP1 |
| CLNDBN | Atrophoderma vermiculatum Keratosis pilaris |
| Reversed | 0 |
| HGVS | NC_000012.11:g.57569429A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000119304.1, RCV000258847.1, |
