Difference between revisions of "Rs587777077"
From SNPedia
SNPediaBot (talk | contribs) m (updated ClinVar data) |
SNPediaBot (talk | contribs) m (updated ClinVar data) |
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|ALT=C,CGAA | |ALT=C,CGAA | ||
|CHROM=18 | |CHROM=18 | ||
| − | |CLNACC=RCV000224433. | + | |CLNACC=RCV000224433.3 |
|CLNALLE=1 | |CLNALLE=1 | ||
|CLNDBN=Oculomelic amyoplasia | |CLNDBN=Oculomelic amyoplasia | ||
| − | |CLNDSDB=MedGen:OMIM: | + | |CLNDSDB=MedGen:OMIM:Orphanet |
| − | |CLNDSDBID=C1862472:108145: | + | |CLNDSDBID=C1862472:108145:ORPHA1154 |
|CLNHGVS=NC_000018.9:g.10671600_10671602delTCT | |CLNHGVS=NC_000018.9:g.10671600_10671602delTCT | ||
|CLNORIGIN=33 | |CLNORIGIN=33 | ||
| Line 37: | Line 37: | ||
|SAO=3 | |SAO=3 | ||
|SSR=0 | |SSR=0 | ||
| − | |Tags=RV;PM;ASP;LSD;OM;NOC | + | |Tags=RV;PM;REF;ASP;LSD;OM;NOC |
|VC=DIV | |VC=DIV | ||
| − | |VP= | + | |VP=0x050060000205000002110210 |
|WGT=1 | |WGT=1 | ||
|dbSNPBuildID=147 | |dbSNPBuildID=147 | ||
Revision as of 01:36, 20 December 2016
| Orientation | plus |
| Stabilized | plus |
| 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(-;TTC) |
| Make rs587777077(TTC;TTC) |
| Reference | GRCh38 38.1/142 |
| 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(TTCG;TTCG) rs587777077(G;G) |
| Alt | rs587777077(TTCG;TTCG) rs587777077(G;G) |
| Reference | Rs587777077(GAAG;GAAG) |
| Significance | Pathogenic |
| Disease | Oculomelic amyoplasia |
| Variation | info |
| Gene | PIEZO2 |
| CLNDBN | Oculomelic amyoplasia |
| Reversed | 1 |
| HGVS | NC_000018.9:g.10671600_10671602delTCT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000224433.3, |
