Difference between revisions of "Rs58343600"
From SNPedia
SNPediaBot (talk | contribs) m (added ClinVar data) |
OrientalBot (talk | contribs) (change position=40866760;set Gene_s=KRT12,LOC105371777;set Gene=KRT12) |
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| (10 intermediate revisions by 2 users not shown) | |||
| 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 | ||
| + | |Gene_s=KRT12,LOC105371777 | ||
}}{{omim | }}{{omim | ||
|id=601687 | |id=601687 | ||
| Line 21: | Line 23: | ||
|Reversed=1 | |Reversed=1 | ||
|FwdREF=G | |FwdREF=G | ||
| − | |FwdALT=C | + | |FwdALT=C,T |
|REF=C | |REF=C | ||
| − | |ALT=G | + | |ALT=A,G |
|RSPOS=39023012 | |RSPOS=39023012 | ||
|CHROM=17 | |CHROM=17 | ||
| − | |dbSNPBuildID= | + | |dbSNPBuildID=133 |
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050168000a05000002110100 |
|GENEINFO=KRT12:3859 | |GENEINFO=KRT12:3859 | ||
|GENE_NAME=KRT12 | |GENE_NAME=KRT12 | ||
| Line 35: | Line 37: | ||
|WGT=1 | |WGT=1 | ||
|VC=SNV | |VC=SNV | ||
| − | |CLNALLE=1 | + | |CLNALLE=1; 2 |
| − | |CLNHGVS=NC_000017.10:g.39023012C>G | + | |CLNHGVS=NC_000017.10:g.39023012C>A; NC_000017.10:g.39023012C>G |
| − | |CLNSRC=OMIM Allelic Variant | + | |CLNSRC=UniProtKB (protein); OMIM Allelic Variant |
| − | |CLNORIGIN=1 | + | |CLNORIGIN=0; 1 |
| − | |CLNSRCID=601687.0002 | + | |CLNSRCID=Q99456#VAR_003835; 601687.0002 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C0339277 | |CLNCUI=C0339277 | ||
| − | |CLNDBN=Meesman's corneal dystrophy | + | |CLNDBN=not provided; Meesman's corneal dystrophy |
| − | |Disease=Meesman's corneal dystrophy | + | |Disease=not provided; Meesman's corneal dystrophy |
| − | |CLNACC= | + | |CLNACC=RCV000056427.1; RCV000008384.3; RCV000056426.1 |
| − | |Tags=RV;PM;SLO;NSM;REF; | + | |Tags=RV;PM;PMC;SLO;NSM;REF;ASP;LSD;OM |
| + | |CLNDSDB=MedGen; MedGen:OMIM:Orphanet:SNOMED_CT | ||
| + | |CLNDSDBID=CN221809; C0339277:122100:ORPHA98954:1674008 | ||
| + | |CLNREVSTAT=no_assertion; no_criteria | ||
}} | }} | ||
{{on chip | 23andMe v3}} | {{on chip | 23andMe v3}} | ||
| + | {{on chip | 23andMe v4}} | ||
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, |
