Difference between revisions of "Rs121434480"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
OrientalBot (talk | contribs) (updated ClinVar data) |
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| Line 29: | Line 29: | ||
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050268080a05040002110100 |
|GENEINFO=HPGD:3248 | |GENEINFO=HPGD:3248 | ||
|GENE_NAME=HPGD | |GENE_NAME=HPGD | ||
| Line 39: | Line 39: | ||
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
|CLNSIG=5 | |CLNSIG=5 | ||
| − | |Tags=RV;PM;S3D;NSM;REF;INT;ASP;VLD;LSD;OM | + | |Tags=RV;PM;PMC;S3D;NSM;REF;INT;ASP;VLD;LSD;OM |
|CLNACC=RCV000008379.5; RCV000144084.2 | |CLNACC=RCV000008379.5; RCV000144084.2 | ||
|CLNDBN=Cranioosteoarthropathy; Pachydermoperiostosis syndrome | |CLNDBN=Cranioosteoarthropathy; Pachydermoperiostosis syndrome | ||
Revision as of 22:44, 16 July 2017
| 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, |
