rs760714959
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs760714959(A;A) |
| Make rs760714959(A;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 104037688 |
| Gene | COL17A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760714959 |
| dbSNP (classic) | rs760714959 |
| ClinGen | rs760714959 |
| ebi | rs760714959 |
| HLI | rs760714959 |
| Exac | rs760714959 |
| Gnomad | rs760714959 |
| Varsome | rs760714959 |
| LitVar | rs760714959 |
| Map | rs760714959 |
| PheGenI | rs760714959 |
| Biobank | rs760714959 |
| 1000 genomes | rs760714959 |
| hgdp | rs760714959 |
| ensembl | rs760714959 |
| geneview | rs760714959 |
| scholar | rs760714959 |
| rs760714959 | |
| pharmgkb | rs760714959 |
| gwascentral | rs760714959 |
| openSNP | rs760714959 |
| 23andMe | rs760714959 |
| SNPshot | rs760714959 |
| SNPdbe | rs760714959 |
| MSV3d | rs760714959 |
| GWAS Ctlg | rs760714959 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs760714959(A;A) |
| Alt | rs760714959(A;A) |
| Reference | Rs760714959(G;G) |
| Significance | Pathogenic |
| Disease | Epithelial recurrent erosion dystrophy |
| Variation | info |
| Gene | COL17A1 |
| CLNDBN | Epithelial recurrent erosion dystrophy |
| Reversed | 0 |
| HGVS | NC_000010.10:g.105797446G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000190897.3, |
