Difference between revisions of "Rs121434481"
From SNPedia
SNPediaBot (talk | contribs) m (Set on chip) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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|CLNALLE=1 | |CLNALLE=1 | ||
|CLNHGVS=NC_000004.11:g.175414387A>G | |CLNHGVS=NC_000004.11:g.175414387A>G | ||
| − | |CLNSRC=OMIM Allelic Variant | + | |CLNSRC=OMIM Allelic Variant; UniProtKB (protein) |
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
| − | |CLNSRCID=601688.0004 | + | |CLNSRCID=601688.0004; P15428#VAR_060792 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C1861514 | |CLNCUI=C1861514 | ||
Revision as of 02:32, 15 December 2016
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs121434481(C;C) |
| Make rs121434481(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 174493236 |
| Gene | HPGD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434481 |
| dbSNP (classic) | rs121434481 |
| ClinGen | rs121434481 |
| ebi | rs121434481 |
| HLI | rs121434481 |
| Exac | rs121434481 |
| Gnomad | rs121434481 |
| Varsome | rs121434481 |
| LitVar | rs121434481 |
| Map | rs121434481 |
| PheGenI | rs121434481 |
| Biobank | rs121434481 |
| 1000 genomes | rs121434481 |
| hgdp | rs121434481 |
| ensembl | rs121434481 |
| geneview | rs121434481 |
| scholar | rs121434481 |
| rs121434481 | |
| pharmgkb | rs121434481 |
| gwascentral | rs121434481 |
| openSNP | rs121434481 |
| 23andMe | rs121434481 |
| SNPshot | rs121434481 |
| SNPdbe | rs121434481 |
| MSV3d | rs121434481 |
| GWAS Ctlg | rs121434481 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121434481(C;C) |
| Alt | rs121434481(C;C) |
| Reference | Rs121434481(T;T) |
| Significance | Pathogenic |
| Disease | Digital clubbing |
| Variation | info |
| Gene | HPGD |
| CLNDBN | Digital clubbing, isolated congenital |
| Reversed | 1 |
| HGVS | NC_000004.11:g.175414387A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008382.2, |
