Difference between revisions of "Rs121434480"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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|CLNDSDB=MedGen; MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT | |CLNDSDB=MedGen; MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT | ||
|CLNDSDBID=C2678439; C0029411:259100:ORPHA1525:ORPHA2796:88220006 | |CLNDSDBID=C2678439; C0029411:259100:ORPHA1525:ORPHA2796:88220006 | ||
| − | |CLNSRC= | + | |CLNSRC=OMIM Allelic Variant |
| − | |CLNSRCID= | + | |CLNSRCID=601688.0001 |
|Disease=Cranioosteoarthropathy; Pachydermoperiostosis syndrome | |Disease=Cranioosteoarthropathy; Pachydermoperiostosis syndrome | ||
| − | |CLNREVSTAT= | + | |CLNREVSTAT=no_assertion_criteria_provided |
}} | }} | ||
Revision as of 20:13, 7 July 2015
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121434480(C;C) |
| Make rs121434480(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 174508699 |
| Gene | HPGD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434480 |
| dbSNP (classic) | rs121434480 |
| ClinGen | rs121434480 |
| ebi | rs121434480 |
| HLI | rs121434480 |
| Exac | rs121434480 |
| Gnomad | rs121434480 |
| Varsome | rs121434480 |
| LitVar | rs121434480 |
| Map | rs121434480 |
| PheGenI | rs121434480 |
| Biobank | rs121434480 |
| 1000 genomes | rs121434480 |
| hgdp | rs121434480 |
| ensembl | rs121434480 |
| geneview | rs121434480 |
| scholar | rs121434480 |
| rs121434480 | |
| pharmgkb | rs121434480 |
| gwascentral | rs121434480 |
| openSNP | rs121434480 |
| 23andMe | rs121434480 |
| SNPshot | rs121434480 |
| SNPdbe | rs121434480 |
| MSV3d | rs121434480 |
| GWAS Ctlg | rs121434480 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121434480(C;C) |
| Alt | rs121434480(C;C) |
| Reference | Rs121434480(G;G) |
| Significance | Pathogenic |
| Disease | Cranioosteoarthropathy Pachydermoperiostosis syndrome |
| Variation | info |
| Gene | HPGD |
| CLNDBN | Cranioosteoarthropathy Pachydermoperiostosis syndrome |
| Reversed | 1 |
| HGVS | NC_000004.12:g.174508699C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008379.4, RCV000144084.1, |
