Difference between revisions of "Rs58410481"
From SNPedia
SNPediaBot (talk | contribs) m (Set on chip) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050160000000000002110100 |
|GENEINFO=KRT12:3859 | |GENEINFO=KRT12:3859 | ||
|GENE_NAME=KRT12 | |GENE_NAME=KRT12 | ||
|GENE_ID=3859 | |GENE_ID=3859 | ||
| − | |WGT= | + | |WGT=0 |
|VC=SNV | |VC=SNV | ||
|CLNALLE=1 | |CLNALLE=1 | ||
|CLNHGVS=NC_000017.10:g.39023036T>C | |CLNHGVS=NC_000017.10:g.39023036T>C | ||
| − | |CLNSRC=OMIM Allelic Variant | + | |CLNSRC=Epithelial Biology; OMIM Allelic Variant |
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
| − | |CLNSRCID=601687.0003 | + | |CLNSRCID=KRT12:c.403A>G; 601687.0003 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C0339277 | |CLNCUI=C0339277 | ||
| − | |CLNDBN=Meesman's corneal dystrophy | + | |CLNDBN=Meesman's corneal dystrophy; not provided |
| − | |Disease=Meesman's corneal dystrophy | + | |Disease=Meesman's corneal dystrophy; not provided |
| − | |CLNACC=RCV000008385.1 | + | |CLNACC=RCV000008385.1; RCV000056420.1 |
| − | |Tags=RV;PM;SLO | + | |Tags=RV;PM;SLO;OTHERKG;LSD;OM |
|CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT | |CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT | ||
|CLNDSDBID=C0339277:122100:98954:1674008 | |CLNDSDBID=C0339277:122100:98954:1674008 | ||
Revision as of 19:41, 2 April 2014
| Orientation | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs58410481(A;G) |
| Make rs58410481(G;G) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 17 |
| Position | 39023036 |
| Gene | KRT12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58410481 |
| dbSNP (classic) | rs58410481 |
| ClinGen | rs58410481 |
| ebi | rs58410481 |
| HLI | rs58410481 |
| Exac | rs58410481 |
| Gnomad | rs58410481 |
| Varsome | rs58410481 |
| LitVar | rs58410481 |
| Map | rs58410481 |
| PheGenI | rs58410481 |
| Biobank | rs58410481 |
| 1000 genomes | rs58410481 |
| hgdp | rs58410481 |
| ensembl | rs58410481 |
| geneview | rs58410481 |
| scholar | rs58410481 |
| rs58410481 | |
| pharmgkb | rs58410481 |
| gwascentral | rs58410481 |
| openSNP | rs58410481 |
| 23andMe | rs58410481 |
| SNPshot | rs58410481 |
| SNPdbe | rs58410481 |
| MSV3d | rs58410481 |
| GWAS Ctlg | rs58410481 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs58410481(G;G) |
| Alt | rs58410481(G;G) |
| Reference | Rs58410481(A;A) |
| 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.39023036T>C |
| CLNSRC | Epithelial Biology OMIM Allelic Variant |
| CLNACC | RCV000008385.1, RCV000056420.1, |
