rs112118237
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs112118237(C;T) |
| Make rs112118237(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 15 |
| Position | 48420731 |
| Gene | FBN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs112118237 |
| dbSNP (classic) | rs112118237 |
| ClinGen | rs112118237 |
| ebi | rs112118237 |
| HLI | rs112118237 |
| Exac | rs112118237 |
| Gnomad | rs112118237 |
| Varsome | rs112118237 |
| LitVar | rs112118237 |
| Map | rs112118237 |
| PheGenI | rs112118237 |
| Biobank | rs112118237 |
| 1000 genomes | rs112118237 |
| hgdp | rs112118237 |
| ensembl | rs112118237 |
| geneview | rs112118237 |
| scholar | rs112118237 |
| rs112118237 | |
| pharmgkb | rs112118237 |
| gwascentral | rs112118237 |
| openSNP | rs112118237 |
| 23andMe | rs112118237 |
| SNPshot | rs112118237 |
| SNPdbe | rs112118237 |
| MSV3d | rs112118237 |
| GWAS Ctlg | rs112118237 |
| Merged from | Rs794728277 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs112118237(A;A) rs112118237(T;T) |
| Alt | rs112118237(A;A) rs112118237(T;T) |
| Reference | Rs112118237(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | FBN1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.48712928C>A; NC_000015.9:g.48712928C>T |
| CLNSRC | |
| CLNACC | RCV000484944.1, RCV000181614.2, |
