Difference between revisions of "Rs121434481"
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SNPediaBot (talk | contribs) m (updated ClinVar data) |
OrientalBot (talk | contribs) (Set on chip ancestryv2) |
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|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050268080a05000002110100 |
|GENEINFO=HPGD:3248 | |GENEINFO=HPGD:3248 | ||
|GENE_NAME=HPGD | |GENE_NAME=HPGD | ||
| Line 45: | Line 45: | ||
|Disease=Digital clubbing | |Disease=Digital clubbing | ||
|CLNACC=RCV000008382.2 | |CLNACC=RCV000008382.2 | ||
| − | |Tags=RV;PM;S3D;NSM;REF;INT;ASP;LSD;OM | + | |Tags=RV;PM;PMC;S3D;NSM;REF;INT;ASP;LSD;OM |
|CLNDSDB=MedGen:OMIM | |CLNDSDB=MedGen:OMIM | ||
|CLNDSDBID=C1861514:119900 | |CLNDSDBID=C1861514:119900 | ||
| Line 52: | Line 52: | ||
{{on chip | Ancestry v2}} | {{on chip | Ancestry v2}} | ||
| + | {{on chip | Ancestry v2d}} | ||
Latest revision as of 20:01, 6 December 2019
| 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, |
