Difference between revisions of "Rs58918655"
From SNPedia
OrientalBot (talk | contribs) (Set StabilizedOrientation) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
||
| Line 25: | Line 25: | ||
|REF=A | |REF=A | ||
|ALT=C | |ALT=C | ||
| − | |RSPOS= | + | |RSPOS=40866768 |
|CHROM=17 | |CHROM=17 | ||
|dbSNPBuildID=133 | |dbSNPBuildID=133 | ||
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050160000a05000002110100 |
|GENEINFO=KRT12:3859 | |GENEINFO=KRT12:3859 | ||
|GENE_NAME=KRT12 | |GENE_NAME=KRT12 | ||
|GENE_ID=3859 | |GENE_ID=3859 | ||
| − | |WGT= | + | |WGT=1 |
|VC=SNV | |VC=SNV | ||
|CLNALLE=1 | |CLNALLE=1 | ||
| − | |CLNHGVS=NC_000017. | + | |CLNHGVS=NC_000017.11:g.40866768A>C |
| − | |CLNSRC=Epithelial Biology; OMIM Allelic Variant | + | |CLNSRC=ClinVar; Epithelial Biology; OMIM Allelic Variant |
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
| − | |CLNSRCID=KRT12:c.419T>G; 601687.0006 | + | |CLNSRCID=NM_000223.3:c.419T>G; KRT12:c.419T>G; 601687.0006 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C0339277 | |CLNCUI=C0339277 | ||
|CLNDBN=Meesman's corneal dystrophy; not provided | |CLNDBN=Meesman's corneal dystrophy; not provided | ||
|Disease=Meesman's corneal dystrophy; not provided | |Disease=Meesman's corneal dystrophy; not provided | ||
| − | |CLNACC=RCV000008388. | + | |CLNACC=RCV000008388.3; RCV000056425.1 |
| − | |Tags=RV;PM;SLO; | + | |Tags=RV;PM;SLO;NSM;REF;ASP;LSD;OM |
| − | |CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT | + | |CLNDSDB=MedGen:OMIM:Orphanet:SNOMED_CT; MedGen |
| − | |CLNDSDBID=C0339277:122100: | + | |CLNDSDBID=C0339277:122100:ORPHA98954:1674008; CN221809 |
| + | |CLNREVSTAT=single; not | ||
}} | }} | ||
{{on chip | 23andMe v3}} | {{on chip | 23andMe v3}} | ||
{{on chip | 23andMe v4}} | {{on chip | 23andMe v4}} | ||
Revision as of 17:03, 9 February 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_000017.11:g.40866768A>C |
| CLNSRC | ClinVar Epithelial Biology OMIM Allelic Variant |
| CLNACC | RCV000008388.3, RCV000056425.1, |
