rs771415085
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs771415085(C;C) |
| Make rs771415085(C;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 189035106 |
| Gene | COL5A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs771415085 |
| dbSNP (classic) | rs771415085 |
| ClinGen | rs771415085 |
| ebi | rs771415085 |
| HLI | rs771415085 |
| Exac | rs771415085 |
| Gnomad | rs771415085 |
| Varsome | rs771415085 |
| LitVar | rs771415085 |
| Map | rs771415085 |
| PheGenI | rs771415085 |
| Biobank | rs771415085 |
| 1000 genomes | rs771415085 |
| hgdp | rs771415085 |
| ensembl | rs771415085 |
| geneview | rs771415085 |
| scholar | rs771415085 |
| rs771415085 | |
| pharmgkb | rs771415085 |
| gwascentral | rs771415085 |
| openSNP | rs771415085 |
| 23andMe | rs771415085 |
| SNPshot | rs771415085 |
| SNPdbe | rs771415085 |
| MSV3d | rs771415085 |
| GWAS Ctlg | rs771415085 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs771415085(A;A) rs771415085(C;C) rs771415085(T;T) |
| Alt | rs771415085(A;A) rs771415085(C;C) rs771415085(T;T) |
| Reference | Rs771415085(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Ehlers-Danlos syndrome |
| Variation | info |
| Gene | COL5A2 |
| CLNDBN | Ehlers-Danlos syndrome, classic type |
| Reversed | 0 |
| HGVS | NC_000002.11:g.189899832G>A; NC_000002.11:g.189899832G>T |
| CLNSRC | |
| CLNACC | RCV000458973.1, RCV000190499.2, |
