Difference between revisions of "Rs58918655"
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SNPediaBot (talk | contribs) m (updated ClinVar data) |
OrientalBot (talk | contribs) (Set StabilizedOrientation) |
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Revision as of 09:32, 6 January 2015
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs58918655(G;G) |
| Make rs58918655(G;T) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 17 |
| Position | 39023020 |
| Gene | KRT12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58918655 |
| dbSNP (classic) | rs58918655 |
| ClinGen | rs58918655 |
| ebi | rs58918655 |
| HLI | rs58918655 |
| Exac | rs58918655 |
| Gnomad | rs58918655 |
| Varsome | rs58918655 |
| LitVar | rs58918655 |
| Map | rs58918655 |
| PheGenI | rs58918655 |
| Biobank | rs58918655 |
| 1000 genomes | rs58918655 |
| hgdp | rs58918655 |
| ensembl | rs58918655 |
| geneview | rs58918655 |
| scholar | rs58918655 |
| rs58918655 | |
| pharmgkb | rs58918655 |
| gwascentral | rs58918655 |
| openSNP | rs58918655 |
| 23andMe | rs58918655 |
| SNPshot | rs58918655 |
| SNPdbe | rs58918655 |
| MSV3d | rs58918655 |
| GWAS Ctlg | rs58918655 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58918655(G;G) |
| Alt | rs58918655(G;G) |
| Reference | Rs58918655(T;T) |
| Significance | Pathogenic |
| Disease | Meesman's corneal dystrophy not provided |
| Variation | info |
| Gene | KRT12 |
| CLNDBN | Meesman's corneal dystrophy not provided |
| Reversed | 1 |
| HGVS | NC_000017.10:g.39023020A>C |
| CLNSRC | Epithelial Biology OMIM Allelic Variant |
| CLNACC | RCV000008388.2, RCV000056425.1, |
