Difference between revisions of "Rs121434481"
From SNPedia
OrientalBot (talk | contribs) (Set StabilizedOrientation) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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| Line 24: | Line 24: | ||
|REF=A | |REF=A | ||
|ALT=G | |ALT=G | ||
| − | |RSPOS= | + | |RSPOS=174493236 |
|CHROM=4 | |CHROM=4 | ||
|dbSNPBuildID=132 | |dbSNPBuildID=132 | ||
|SSR=0 | |SSR=0 | ||
|SAO=1 | |SAO=1 | ||
| − | |VP= | + | |VP=0x050260080a05000002110100 |
|GENEINFO=HPGD:3248 | |GENEINFO=HPGD:3248 | ||
|GENE_NAME=HPGD | |GENE_NAME=HPGD | ||
|GENE_ID=3248 | |GENE_ID=3248 | ||
| − | |WGT= | + | |WGT=1 |
|VC=SNV | |VC=SNV | ||
|CLNALLE=1 | |CLNALLE=1 | ||
| − | |CLNHGVS=NC_000004. | + | |CLNHGVS=NC_000004.12:g.174493236A>G |
| − | |CLNSRC=OMIM Allelic Variant | + | |CLNSRC=ClinVar; OMIM Allelic Variant |
|CLNORIGIN=1 | |CLNORIGIN=1 | ||
| − | |CLNSRCID=601688.0004 | + | |CLNSRCID=NM_000860.5:c.577T>C; NM_001145816.2:c.499-1142T>C; 601688.0004 |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNCUI=C1861514 | |CLNCUI=C1861514 | ||
| Line 45: | Line 45: | ||
|Disease=Digital clubbing | |Disease=Digital clubbing | ||
|CLNACC=RCV000008382.1 | |CLNACC=RCV000008382.1 | ||
| − | |Tags=RV;PM;S3D; | + | |Tags=RV;PM;S3D;NSM;REF;INT;ASP;LSD;OM |
|CLNDSDB=MedGen:OMIM:Orphanet | |CLNDSDB=MedGen:OMIM:Orphanet | ||
| − | |CLNDSDBID=C1861514:119900: | + | |CLNDSDBID=C1861514:119900:ORPHA217059 |
| + | |CLNREVSTAT=single | ||
}} | }} | ||
Revision as of 22:48, 3 February 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 | ClinVar OMIM Allelic Variant |
| CLNACC | RCV000008382.1, |
