Difference between revisions of "Rs137853277"
From SNPedia
SNPediaBot (talk | contribs) m (added ClinVar data) |
SNPediaBot (talk | contribs) m (OMIM dbSNP link) |
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|CLNDBN=OMIM | |CLNDBN=OMIM | ||
|Tags=RV;PM;NSM;REF;ASP;KGPhase1;KGPROD;OTHERKG;LSD;OM | |Tags=RV;PM;NSM;REF;ASP;KGPhase1;KGPROD;OTHERKG;LSD;OM | ||
| + | }} | ||
| + | {{omim | ||
| + | |id=601652 | ||
| + | |rsnum=137853277 | ||
}} | }} | ||
Revision as of 00:38, 20 August 2012
| Orientation | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs137853277(C;T) |
| Make rs137853277(T;T) |
| Reference | GRCh37.p5 37.3/137 |
| Chromosome | 1 |
| Position | 171605522 |
| Gene | MYOC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137853277 |
| dbSNP (classic) | rs137853277 |
| ClinGen | rs137853277 |
| ebi | rs137853277 |
| HLI | rs137853277 |
| Exac | rs137853277 |
| Gnomad | rs137853277 |
| Varsome | rs137853277 |
| LitVar | rs137853277 |
| Map | rs137853277 |
| PheGenI | rs137853277 |
| Biobank | rs137853277 |
| 1000 genomes | rs137853277 |
| hgdp | rs137853277 |
| ensembl | rs137853277 |
| geneview | rs137853277 |
| scholar | rs137853277 |
| rs137853277 | |
| pharmgkb | rs137853277 |
| gwascentral | rs137853277 |
| openSNP | rs137853277 |
| 23andMe | rs137853277 |
| SNPshot | rs137853277 |
| SNPdbe | rs137853277 |
| MSV3d | rs137853277 |
| GWAS Ctlg | rs137853277 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137853277(T;T) |
| Alt | rs137853277(T;T) |
| Reference | Rs137853277(C;C) |
| Significance | Probable-Pathogenic |
| Disease | |
| Variation | info |
| Gene | MYOC |
| CLNDBN | OMIM |
| Reversed | 1 |
| HGVS | NC_000001.10:g.171605522G>A |
| CLNSRC | |
| CLNACC | |
