rs879255639
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.5 | Myofibrillar Myopathy |
| Make rs879255639(T;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 7 |
| Position | 128848926 |
| Gene | FLNC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879255639 |
| dbSNP (classic) | rs879255639 |
| ClinGen | rs879255639 |
| ebi | rs879255639 |
| HLI | rs879255639 |
| Exac | rs879255639 |
| Gnomad | rs879255639 |
| Varsome | rs879255639 |
| LitVar | rs879255639 |
| Map | rs879255639 |
| PheGenI | rs879255639 |
| Biobank | rs879255639 |
| 1000 genomes | rs879255639 |
| hgdp | rs879255639 |
| ensembl | rs879255639 |
| geneview | rs879255639 |
| scholar | rs879255639 |
| rs879255639 | |
| pharmgkb | rs879255639 |
| gwascentral | rs879255639 |
| openSNP | rs879255639 |
| 23andMe | rs879255639 |
| SNPshot | rs879255639 |
| SNPdbe | rs879255639 |
| MSV3d | rs879255639 |
| GWAS Ctlg | rs879255639 |
| Max Magnitude | 6.5 |
| ClinVar | |
|---|---|
| Risk | rs879255639(T;T) |
| Alt | rs879255639(T;T) |
| Reference | Rs879255639(C;C) |
| Significance | Pathogenic |
| Disease | Cardiomyopathy |
| Variation | info |
| Gene | FLNC |
| CLNDBN | Cardiomyopathy, familial restrictive, 5 |
| Reversed | 0 |
| HGVS | NC_000007.13:g.128488980C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000239540.1, |
