rs149054177
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs149054177(A;G) |
| Make rs149054177(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 5 |
| Position | 128335562 |
| Gene | FBN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs149054177 |
| dbSNP (classic) | rs149054177 |
| ClinGen | rs149054177 |
| ebi | rs149054177 |
| HLI | rs149054177 |
| Exac | rs149054177 |
| Gnomad | rs149054177 |
| Varsome | rs149054177 |
| LitVar | rs149054177 |
| Map | rs149054177 |
| PheGenI | rs149054177 |
| Biobank | rs149054177 |
| 1000 genomes | rs149054177 |
| hgdp | rs149054177 |
| ensembl | rs149054177 |
| geneview | rs149054177 |
| scholar | rs149054177 |
| rs149054177 | |
| pharmgkb | rs149054177 |
| gwascentral | rs149054177 |
| openSNP | rs149054177 |
| 23andMe | rs149054177 |
| SNPshot | rs149054177 |
| SNPdbe | rs149054177 |
| MSV3d | rs149054177 |
| GWAS Ctlg | rs149054177 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs149054177(G;G) |
| Alt | rs149054177(G;G) |
| Reference | Rs149054177(A;A) |
| Significance | Pathogenic |
| Disease | Macular degeneration not specified |
| Variation | info |
| Gene | FBN2 |
| CLNDBN | Macular degeneration, early-onset not specified |
| Reversed | 0 |
| HGVS | NC_000005.9:g.127671254A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000148949.3, RCV000200814.2, |
