Difference between revisions of "Rs58343600"
From SNPedia
OrientalBot (talk | contribs) (updated ClinVar data) |
OrientalBot (talk | contribs) (change position=40866760;set Gene_s=KRT12,LOC105371777;set Gene=KRT12) |
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| Line 7: | Line 7: | ||
|geno3=(G;G) | |geno3=(G;G) | ||
|Gene=KRT12 | |Gene=KRT12 | ||
| − | |position= | + | |position=40866760 |
|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 | ||
Latest revision as of 10:44, 12 August 2017
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs58343600(C;C) |
| Make rs58343600(C;G) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 17 |
| Position | 40866760 |
| Gene | KRT12, LOC105371777 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58343600 |
| dbSNP (classic) | rs58343600 |
| ClinGen | rs58343600 |
| ebi | rs58343600 |
| HLI | rs58343600 |
| Exac | rs58343600 |
| Gnomad | rs58343600 |
| Varsome | rs58343600 |
| LitVar | rs58343600 |
| Map | rs58343600 |
| PheGenI | rs58343600 |
| Biobank | rs58343600 |
| 1000 genomes | rs58343600 |
| hgdp | rs58343600 |
| ensembl | rs58343600 |
| geneview | rs58343600 |
| scholar | rs58343600 |
| rs58343600 | |
| pharmgkb | rs58343600 |
| gwascentral | rs58343600 |
| openSNP | rs58343600 |
| 23andMe | rs58343600 |
| SNPshot | rs58343600 |
| SNPdbe | rs58343600 |
| MSV3d | rs58343600 |
| GWAS Ctlg | rs58343600 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58343600(C;C) rs58343600(T;T) |
| Alt | rs58343600(C;C) rs58343600(T;T) |
| Reference | Rs58343600(G;G) |
| Significance | Pathogenic |
| Disease | not provided Meesman's corneal dystrophy |
| Variation | info |
| Gene | KRT12 |
| CLNDBN | not provided Meesman's corneal dystrophy |
| Reversed | 1 |
| HGVS | NC_000017.10:g.39023012C>A; NC_000017.10:g.39023012C>G |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000056427.1, RCV000008384.3, RCV000056426.1, |
