rs201241191
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs201241191(A;A) |
| Make rs201241191(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 48965836 |
| Gene | FTL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201241191 |
| dbSNP (classic) | rs201241191 |
| ClinGen | rs201241191 |
| ebi | rs201241191 |
| HLI | rs201241191 |
| Exac | rs201241191 |
| Gnomad | rs201241191 |
| Varsome | rs201241191 |
| LitVar | rs201241191 |
| Map | rs201241191 |
| PheGenI | rs201241191 |
| Biobank | rs201241191 |
| 1000 genomes | rs201241191 |
| hgdp | rs201241191 |
| ensembl | rs201241191 |
| geneview | rs201241191 |
| scholar | rs201241191 |
| rs201241191 | |
| pharmgkb | rs201241191 |
| gwascentral | rs201241191 |
| openSNP | rs201241191 |
| 23andMe | rs201241191 |
| SNPshot | rs201241191 |
| SNPdbe | rs201241191 |
| MSV3d | rs201241191 |
| GWAS Ctlg | rs201241191 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201241191(A;A) |
| Alt | rs201241191(A;A) |
| Reference | Rs201241191(G;G) |
| Significance | Probable-Pathogenic |
| Disease | sporadic abdominal aortic aneurysm Neuroferritinopathy Hyperferritinemia cataract syndrome |
| Variation | info |
| Gene | FTL |
| CLNDBN | sporadic abdominal aortic aneurysm Neuroferritinopathy Hyperferritinemia cataract syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.49469093G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000144502.1, RCV000311515.1, RCV000395171.1, |
