Difference between revisions of "Rs121434480"
From SNPedia
SNPediaBot (talk | contribs) m (Set on chip) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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|CLNACC=RCV000008379.5; RCV000144084.2 | |CLNACC=RCV000008379.5; RCV000144084.2 | ||
|CLNDBN=Cranioosteoarthropathy; Pachydermoperiostosis syndrome | |CLNDBN=Cranioosteoarthropathy; Pachydermoperiostosis syndrome | ||
| − | |CLNDSDB=MedGen; MedGen:OMIM: | + | |CLNDSDB=MedGen; MedGen:OMIM:Orphanet:SNOMED_CT |
| − | |CLNDSDBID=C2678439; C0029411:259100: | + | |CLNDSDBID=C2678439; C0029411:259100:ORPHA248095:88220006 |
| − | |CLNSRC=OMIM Allelic Variant | + | |CLNSRC=OMIM Allelic Variant; UniProtKB (protein) |
| − | |CLNSRCID=601688.0001 | + | |CLNSRCID=601688.0001; P15428#VAR_046209 |
|Disease=Cranioosteoarthropathy; Pachydermoperiostosis syndrome | |Disease=Cranioosteoarthropathy; Pachydermoperiostosis syndrome | ||
|CLNREVSTAT=no_criteria | |CLNREVSTAT=no_criteria | ||
Revision as of 02:32, 15 December 2016
| 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_000004.11:g.175429850C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008379.5, RCV000144084.2, |
