Difference between revisions of "Rs121434481"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
||
| Line 37: | Line 37: | ||
|CLNALLE=1 | |CLNALLE=1 | ||
|CLNHGVS=NC_000004.12:g.174493236A>G | |CLNHGVS=NC_000004.12:g.174493236A>G | ||
| − | |CLNSRC= | + | |CLNSRC=OMIM Allelic Variant |
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
| − | |CLNSRCID= | + | |CLNSRCID=601688.0004 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C1861514 | |CLNCUI=C1861514 | ||
| Line 48: | Line 48: | ||
|CLNDSDB=MedGen:OMIM:Orphanet | |CLNDSDB=MedGen:OMIM:Orphanet | ||
|CLNDSDBID=C1861514:119900:ORPHA217059 | |CLNDSDBID=C1861514:119900:ORPHA217059 | ||
| − | |CLNREVSTAT= | + | |CLNREVSTAT=no_assertion_criteria_provided |
}} | }} | ||
Revision as of 20:13, 7 July 2015
| 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_000004.12:g.174493236A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008382.1, |
