Difference between revisions of "Rs587777077"
From SNPedia
m (Update Rsnum - Change: Orientation geno2 geno3 Assembly GenomeBuild dbSNPBuild) |
OrientalBot (talk | contribs) (updated ClinVar data) |
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|StabilizedOrientation=minus | |StabilizedOrientation=minus | ||
}}{{ClinVar | }}{{ClinVar | ||
| − | |ALT=C,CGAA | + | |ALT=C,CAGA,CGAA |
|CHROM=18 | |CHROM=18 | ||
| − | |CLNACC=RCV000224433.3 | + | |CLNACC=RCV000224433.3; RCV000415170.1; RCV000487334.1 |
|CLNALLE=1 | |CLNALLE=1 | ||
| − | |CLNDBN=Oculomelic amyoplasia | + | |CLNDBN=Oculomelic amyoplasia; Distal arthrogryposis; not provided |
| − | |CLNDSDB=MedGen:OMIM:Orphanet | + | |CLNDSDB=MedGen:OMIM:Orphanet; Human_Phenotype_Ontology:MedGen; MedGen |
| − | |CLNDSDBID=C1862472:108145:ORPHA1154 | + | |CLNDSDBID=C1862472:108145:ORPHA1154; HP:0005684:CN005034; CN221809 |
|CLNHGVS=NC_000018.9:g.10671600_10671602delTCT | |CLNHGVS=NC_000018.9:g.10671600_10671602delTCT | ||
|CLNORIGIN=33 | |CLNORIGIN=33 | ||
| − | |CLNREVSTAT=no_criteria | + | |CLNREVSTAT=no_criteria; single |
|CLNSIG=5 | |CLNSIG=5 | ||
|CLNSRC=OMIM Allelic Variant | |CLNSRC=OMIM Allelic Variant | ||
|CLNSRCID=613629.0002 | |CLNSRCID=613629.0002 | ||
| − | |Disease=Oculomelic amyoplasia | + | |Disease=Oculomelic amyoplasia; Distal arthrogryposis; not provided |
| − | |FwdREF= | + | |FwdREF=GAA |
|GENEINFO=PIEZO2:63895 | |GENEINFO=PIEZO2:63895 | ||
|GENE_ID=63895 | |GENE_ID=63895 | ||
| Line 37: | Line 37: | ||
|SAO=3 | |SAO=3 | ||
|SSR=0 | |SSR=0 | ||
| − | |Tags=RV;PM;REF;ASP;LSD;OM | + | |Tags=RV;PM;PMC;REF;ASP;LSD;OM |
|VC=DIV | |VC=DIV | ||
| − | |VP= | + | |VP=0x050068000205000002110200 |
|WGT=1 | |WGT=1 | ||
| − | |dbSNPBuildID= | + | |dbSNPBuildID=136 |
|rsid=587777077 | |rsid=587777077 | ||
| − | |FwdALT= | + | |FwdALT=TTC,TCT,- |
}} | }} | ||
Latest revision as of 08:40, 18 July 2017
| Orientation | plus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GAA;GAA) | 0 | common in clinvar |
| (GAAG;GAAG) | 0 | common in clinvar |
| (TCT;TCT) | 0 | common in clinvar |
| Make rs587777077(-;-) |
| Make rs587777077(-;CTT) |
| Make rs587777077(CTT;CTT) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 18 |
| Position | 10671605 |
| Gene | PIEZO2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587777077 |
| dbSNP (classic) | rs587777077 |
| ClinGen | rs587777077 |
| ebi | rs587777077 |
| HLI | rs587777077 |
| Exac | rs587777077 |
| Gnomad | rs587777077 |
| Varsome | rs587777077 |
| LitVar | rs587777077 |
| Map | rs587777077 |
| PheGenI | rs587777077 |
| Biobank | rs587777077 |
| 1000 genomes | rs587777077 |
| hgdp | rs587777077 |
| ensembl | rs587777077 |
| geneview | rs587777077 |
| scholar | rs587777077 |
| rs587777077 | |
| pharmgkb | rs587777077 |
| gwascentral | rs587777077 |
| openSNP | rs587777077 |
| 23andMe | rs587777077 |
| SNPshot | rs587777077 |
| SNPdbe | rs587777077 |
| MSV3d | rs587777077 |
| GWAS Ctlg | rs587777077 |
| Merged from | Rs878853136 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587777077(TTC;TTC) Rs587777077(TCT;TCT) rs587777077(-;-) |
| Alt | rs587777077(TTC;TTC) Rs587777077(TCT;TCT) rs587777077(-;-) |
| Reference | Rs587777077(GAA;GAA) |
| Significance | Pathogenic |
| Disease | Oculomelic amyoplasia Distal arthrogryposis not provided |
| Variation | info |
| Gene | PIEZO2 |
| CLNDBN | Oculomelic amyoplasia Distal arthrogryposis not provided |
| Reversed | 1 |
| HGVS | NC_000018.9:g.10671600_10671602delTCT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000224433.3, RCV000415170.1, RCV000487334.1, |
