Difference between revisions of "Rs121434481"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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| Line 27: | Line 27: | ||
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050260000000000002110100 |
|GENEINFO=HPGD:3248 | |GENEINFO=HPGD:3248 | ||
|GENE_NAME=HPGD | |GENE_NAME=HPGD | ||
|GENE_ID=3248 | |GENE_ID=3248 | ||
| − | |WGT= | + | |WGT=0 |
|VC=SNV | |VC=SNV | ||
|CLNALLE=1 | |CLNALLE=1 | ||
| Line 43: | Line 43: | ||
|Disease=Digital clubbing | |Disease=Digital clubbing | ||
|CLNACC=RCV000008382.1 | |CLNACC=RCV000008382.1 | ||
| − | |Tags=RV;PM;S3D | + | |Tags=RV;PM;S3D;OTHERKG;LSD;OM |
|CLNDSDB=MedGen:OMIM:Orphanet | |CLNDSDB=MedGen:OMIM:Orphanet | ||
|CLNDSDBID=C1861514:119900:217059 | |CLNDSDBID=C1861514:119900:217059 | ||
}} | }} | ||
Revision as of 19:05, 31 March 2014
| Orientation | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs121434481(C;C) |
| Make rs121434481(C;T) |
| Reference | GRCh37 37.1/132 |
| Chromosome | 4 |
| Position | 175414387 |
| 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 |
| CLNACC | RCV000008382.1, |
