rs121912831
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121912831(G;T) |
| Make rs121912831(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 48568098 |
| Gene | COL7A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912831 |
| dbSNP (classic) | rs121912831 |
| ClinGen | rs121912831 |
| ebi | rs121912831 |
| HLI | rs121912831 |
| Exac | rs121912831 |
| Gnomad | rs121912831 |
| Varsome | rs121912831 |
| LitVar | rs121912831 |
| Map | rs121912831 |
| PheGenI | rs121912831 |
| Biobank | rs121912831 |
| 1000 genomes | rs121912831 |
| hgdp | rs121912831 |
| ensembl | rs121912831 |
| geneview | rs121912831 |
| scholar | rs121912831 |
| rs121912831 | |
| pharmgkb | rs121912831 |
| gwascentral | rs121912831 |
| openSNP | rs121912831 |
| 23andMe | rs121912831 |
| SNPshot | rs121912831 |
| SNPdbe | rs121912831 |
| MSV3d | rs121912831 |
| GWAS Ctlg | rs121912831 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121912831(T;T) |
| Alt | rs121912831(T;T) |
| Reference | Rs121912831(G;G) |
| Significance | Pathogenic |
| Disease | Pretibial epidermolysis bullosa |
| Variation | info |
| Gene | COL7A1 |
| CLNDBN | Pretibial epidermolysis bullosa |
| Reversed | 1 |
| HGVS | NC_000003.11:g.48605531C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018975.27, |
[PMID 8541842] Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen.
