Difference between revisions of "Rs58410481"
From SNPedia
SNPediaBot (talk | contribs) m (OMIM dbSNP link) |
SNPediaBot (talk | contribs) m (added ClinVar data) |
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|rsnum=58410481 | |rsnum=58410481 | ||
|variant=0003 | |variant=0003 | ||
| + | }} | ||
| + | |||
| + | {{ClinVar | ||
| + | |rsid=58410481 | ||
| + | |Reversed=1 | ||
| + | |FwdREF=A | ||
| + | |FwdALT=G | ||
| + | |REF=T | ||
| + | |ALT=C | ||
| + | |RSPOS=39023036 | ||
| + | |CHROM=17 | ||
| + | |dbSNPBuildID=129 | ||
| + | |SSR=0 | ||
| + | |SAO=1 | ||
| + | |VP=050160000a01000002110100 | ||
| + | |GENEINFO=KRT12:3859 | ||
| + | |GENE_NAME=KRT12 | ||
| + | |GENE_ID=3859 | ||
| + | |WGT=1 | ||
| + | |VC=SNV | ||
| + | |CLNALLE=1 | ||
| + | |CLNHGVS=NC_000017.10:g.39023036T>C | ||
| + | |CLNSRC=OMIM Allelic Variant | ||
| + | |CLNORIGIN=1 | ||
| + | |CLNSRCID=601687.0003 | ||
| + | |CLNSIG=5 | ||
| + | |CLNCUI=C0339277 | ||
| + | |CLNDBN=Meesman's corneal dystrophy | ||
| + | |Disease=Meesman's corneal dystrophy | ||
| + | |CLNACC=SCV000028593.1 | ||
| + | |Tags=RV;PM;SLO;NSM;REF;OTHERKG;LSD;OM | ||
}} | }} | ||
{{on chip | 23andMe v3}} | {{on chip | 23andMe v3}} | ||
Revision as of 17:29, 31 July 2012
| 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 |
| Variation | info |
| Gene | KRT12 |
| CLNDBN | Meesman's corneal dystrophy |
| Reversed | 1 |
| HGVS | NC_000017.10:g.39023036T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | SCV000028593.1, |
