rs80356517
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80356517(C;T) |
| Make rs80356517(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 58108461 |
| Gene | FLNB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356517 |
| dbSNP (classic) | rs80356517 |
| ClinGen | rs80356517 |
| ebi | rs80356517 |
| HLI | rs80356517 |
| Exac | rs80356517 |
| Gnomad | rs80356517 |
| Varsome | rs80356517 |
| LitVar | rs80356517 |
| Map | rs80356517 |
| PheGenI | rs80356517 |
| Biobank | rs80356517 |
| 1000 genomes | rs80356517 |
| hgdp | rs80356517 |
| ensembl | rs80356517 |
| geneview | rs80356517 |
| scholar | rs80356517 |
| rs80356517 | |
| pharmgkb | rs80356517 |
| gwascentral | rs80356517 |
| openSNP | rs80356517 |
| 23andMe | rs80356517 |
| SNPshot | rs80356517 |
| SNPdbe | rs80356517 |
| MSV3d | rs80356517 |
| GWAS Ctlg | rs80356517 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356517(T;T) |
| Alt | rs80356517(T;T) |
| Reference | Rs80356517(C;C) |
| Significance | Pathogenic |
| Disease | Spondylocarpotarsal synostosis syndrome |
| Variation | info |
| Gene | FLNB |
| CLNDBN | Spondylocarpotarsal synostosis syndrome |
| Reversed | 0 |
| HGVS | NC_000003.11:g.58094188C>T |
| CLNSRC | Universidade Católica de Brasília |
| CLNACC | RCV000020443.2, |
