Difference between revisions of "Rs58918655"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
OrientalBot (talk | contribs) (updated ClinVar data) |
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| Line 30: | Line 30: | ||
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050168000a05000002110100 |
|GENEINFO=KRT12:3859 | |GENEINFO=KRT12:3859 | ||
|GENE_NAME=KRT12 | |GENE_NAME=KRT12 | ||
| Line 46: | Line 46: | ||
|Disease=Meesman's corneal dystrophy; not provided | |Disease=Meesman's corneal dystrophy; not provided | ||
|CLNACC=RCV000008388.5; RCV000056425.1 | |CLNACC=RCV000008388.5; RCV000056425.1 | ||
| − | |Tags=RV;PM;SLO;NSM;REF;ASP;LSD;OM | + | |Tags=RV;PM;PMC;SLO;NSM;REF;ASP;LSD;OM |
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen | |CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen | ||
|CLNDSDBID=C0339277:122100:ORPHA98954:1674008; CN221809 | |CLNDSDBID=C0339277:122100:ORPHA98954:1674008; CN221809 | ||
Revision as of 07:58, 18 July 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 | 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 | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008388.5, RCV000056425.1, |
