rs1064797078
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Chromosome | 3 |
| Position | 48595159 |
| Gene | COL7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1064797078 |
| dbSNP (classic) | rs1064797078 |
| ClinGen | rs1064797078 |
| ebi | rs1064797078 |
| HLI | rs1064797078 |
| Exac | rs1064797078 |
| Gnomad | rs1064797078 |
| Varsome | rs1064797078 |
| LitVar | rs1064797078 |
| Map | rs1064797078 |
| PheGenI | rs1064797078 |
| Biobank | rs1064797078 |
| 1000 genomes | rs1064797078 |
| hgdp | rs1064797078 |
| ensembl | rs1064797078 |
| geneview | rs1064797078 |
| scholar | rs1064797078 |
| rs1064797078 | |
| pharmgkb | rs1064797078 |
| gwascentral | rs1064797078 |
| openSNP | rs1064797078 |
| 23andMe | rs1064797078 |
| SNPshot | rs1064797078 |
| SNPdbe | rs1064797078 |
| MSV3d | rs1064797078 |
| GWAS Ctlg | rs1064797078 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1064797078(G;G) |
| Alt | rs1064797078(G;G) |
| Reference | Rs1064797078(A;A) |
| Significance | Pathogenic |
| Disease | Recessive dystrophic epidermolysis bullosa |
| Variation | info |
| Gene | COL7A1 |
| CLNDBN | Recessive dystrophic epidermolysis bullosa |
| Reversed | 1 |
| HGVS | NC_000003.11:g.48632592T>C |
| CLNSRC | |
| CLNACC | RCV000487444.1, |
