Difference between revisions of "Rs121434480"
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{{Rsnum | {{Rsnum | ||
|rsid=121434480 | |rsid=121434480 | ||
| − | }} | + | |Chromosome=4 |
| − | + | |Orientation=minus | |
| − | {{omim | + | |geno1=(C;C) |
| + | |geno2=(C;G) | ||
| + | |geno3=(G;G) | ||
| + | |Gene=HPGD | ||
| + | |position=174508699 | ||
| + | |Assembly=GRCh38 | ||
| + | |GenomeBuild=38.1 | ||
| + | |dbSNPBuild=141 | ||
| + | |Gene_s=HPGD | ||
| + | |StabilizedOrientation=minus | ||
| + | }}{{omim | ||
|id=601688 | |id=601688 | ||
| + | |rsnum=121434480 | ||
|variant=0001 | |variant=0001 | ||
| − | | | + | }}{{ClinVar |
| + | |rsid=121434480 | ||
| + | |Reversed=1 | ||
| + | |FwdREF=G | ||
| + | |FwdALT=C | ||
| + | |REF=C | ||
| + | |ALT=G | ||
| + | |RSPOS=175429850 | ||
| + | |CHROM=4 | ||
| + | |dbSNPBuildID=132 | ||
| + | |SSR=0 | ||
| + | |SAO=1 | ||
| + | |VP=0x050268080a05040002110100 | ||
| + | |GENEINFO=HPGD:3248 | ||
| + | |GENE_NAME=HPGD | ||
| + | |GENE_ID=3248 | ||
| + | |WGT=1 | ||
| + | |VC=SNV | ||
| + | |CLNALLE=1 | ||
| + | |CLNHGVS=NC_000004.11:g.175429850C>G | ||
| + | |CLNORIGIN=1 | ||
| + | |CLNSIG=5 | ||
| + | |Tags=RV;PM;PMC;S3D;NSM;REF;INT;ASP;VLD;LSD;OM | ||
| + | |CLNACC=RCV000008379.5; RCV000144084.2 | ||
| + | |CLNDBN=Cranioosteoarthropathy; Pachydermoperiostosis syndrome | ||
| + | |CLNDSDB=MedGen; MedGen:OMIM:Orphanet:SNOMED_CT | ||
| + | |CLNDSDBID=C2678439; C0029411:259100:ORPHA248095:88220006 | ||
| + | |CLNSRC=OMIM Allelic Variant; UniProtKB (protein) | ||
| + | |CLNSRCID=601688.0001; P15428#VAR_046209 | ||
| + | |Disease=Cranioosteoarthropathy; Pachydermoperiostosis syndrome | ||
| + | |CLNREVSTAT=no_criteria | ||
}} | }} | ||
| + | |||
| + | {{on chip | Ancestry v2}} | ||
| + | {{on chip | Ancestry v2c}} | ||
| + | {{on chip | Ancestry v2d}} | ||
Latest revision as of 20:01, 6 December 2019
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121434480(C;C) |
| Make rs121434480(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 174508699 |
| Gene | HPGD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121434480 |
| dbSNP (classic) | rs121434480 |
| ClinGen | rs121434480 |
| ebi | rs121434480 |
| HLI | rs121434480 |
| Exac | rs121434480 |
| Gnomad | rs121434480 |
| Varsome | rs121434480 |
| LitVar | rs121434480 |
| Map | rs121434480 |
| PheGenI | rs121434480 |
| Biobank | rs121434480 |
| 1000 genomes | rs121434480 |
| hgdp | rs121434480 |
| ensembl | rs121434480 |
| geneview | rs121434480 |
| scholar | rs121434480 |
| rs121434480 | |
| pharmgkb | rs121434480 |
| gwascentral | rs121434480 |
| openSNP | rs121434480 |
| 23andMe | rs121434480 |
| SNPshot | rs121434480 |
| SNPdbe | rs121434480 |
| MSV3d | rs121434480 |
| GWAS Ctlg | rs121434480 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121434480(C;C) |
| Alt | rs121434480(C;C) |
| Reference | Rs121434480(G;G) |
| Significance | Pathogenic |
| Disease | Cranioosteoarthropathy Pachydermoperiostosis syndrome |
| Variation | info |
| Gene | HPGD |
| CLNDBN | Cranioosteoarthropathy Pachydermoperiostosis syndrome |
| Reversed | 1 |
| HGVS | NC_000004.11:g.175429850C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008379.5, RCV000144084.2, |
