rs121912853
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a COL7A1 dystrophic epidermolysis bullosa mutation |
| (G;G) | 0 | common in clinvar |
| Make rs121912853(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 48566719 |
| Gene | COL7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912853 |
| dbSNP (classic) | rs121912853 |
| ClinGen | rs121912853 |
| ebi | rs121912853 |
| HLI | rs121912853 |
| Exac | rs121912853 |
| Gnomad | rs121912853 |
| Varsome | rs121912853 |
| LitVar | rs121912853 |
| Map | rs121912853 |
| PheGenI | rs121912853 |
| Biobank | rs121912853 |
| 1000 genomes | rs121912853 |
| hgdp | rs121912853 |
| ensembl | rs121912853 |
| geneview | rs121912853 |
| scholar | rs121912853 |
| rs121912853 | |
| pharmgkb | rs121912853 |
| gwascentral | rs121912853 |
| openSNP | rs121912853 |
| 23andMe | rs121912853 |
| SNPshot | rs121912853 |
| SNPdbe | rs121912853 |
| MSV3d | rs121912853 |
| GWAS Ctlg | rs121912853 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs121912853(A;A) rs121912853(T;T) |
| Alt | rs121912853(A;A) rs121912853(T;T) |
| Reference | Rs121912853(G;G) |
| Significance | Pathogenic |
| Disease | Recessive dystrophic epidermolysis bullosa |
| Variation | info |
| Gene | COL7A1 |
| CLNDBN | Recessive dystrophic epidermolysis bullosa |
| Reversed | 1 |
| HGVS | NC_000003.11:g.48604152C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019011.24, |
