Difference between revisions of "Rs58918655"
From SNPedia
OrientalBot (talk | contribs) (updated ClinVar data) |
OrientalBot (talk | contribs) (change position=40866768;set Gene_s=KRT12,LOC105371777;set Gene=KRT12) |
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| Line 7: | Line 7: | ||
|geno3=(T;T) | |geno3=(T;T) | ||
|Gene=KRT12 | |Gene=KRT12 | ||
| − | |position= | + | |position=40866768 |
|Assembly=GRCh37 | |Assembly=GRCh37 | ||
|GenomeBuild=37.1 | |GenomeBuild=37.1 | ||
|dbSNPBuild=132 | |dbSNPBuild=132 | ||
|StabilizedOrientation=minus | |StabilizedOrientation=minus | ||
| + | |Gene_s=KRT12,LOC105371777 | ||
}}{{omim | }}{{omim | ||
|id=601687 | |id=601687 | ||
Revision as of 10:44, 12 August 2017
| 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 | 40866768 |
| Gene | KRT12, LOC105371777 |
| 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 | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008388.5, RCV000056425.1, |
