rs200060005
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs200060005(C;T) |
| Make rs200060005(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 5 |
| Position | 128338975 |
| Gene | FBN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200060005 |
| dbSNP (classic) | rs200060005 |
| ClinGen | rs200060005 |
| ebi | rs200060005 |
| HLI | rs200060005 |
| Exac | rs200060005 |
| Gnomad | rs200060005 |
| Varsome | rs200060005 |
| LitVar | rs200060005 |
| Map | rs200060005 |
| PheGenI | rs200060005 |
| Biobank | rs200060005 |
| 1000 genomes | rs200060005 |
| hgdp | rs200060005 |
| ensembl | rs200060005 |
| geneview | rs200060005 |
| scholar | rs200060005 |
| rs200060005 | |
| pharmgkb | rs200060005 |
| gwascentral | rs200060005 |
| openSNP | rs200060005 |
| 23andMe | rs200060005 |
| SNPshot | rs200060005 |
| SNPdbe | rs200060005 |
| MSV3d | rs200060005 |
| GWAS Ctlg | rs200060005 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200060005(G;G) rs200060005(T;T) |
| Alt | rs200060005(G;G) rs200060005(T;T) |
| Reference | Rs200060005(C;C) |
| Significance | Pathogenic |
| Disease | Macular degeneration Thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly |
| Variation | info |
| Gene | FBN2 |
| CLNDBN | Macular degeneration, early-onset Thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly |
| Reversed | 0 |
| HGVS | NC_000005.9:g.127674667C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000148948.3, RCV000248484.1, RCV000468154.1, |
