Difference between revisions of "Rs587777077"
From SNPedia
OrientalBot (talk | contribs) (set StabilizedOrientation=minus) |
m (Update Rsnum - Change: Orientation geno2 geno3 Assembly GenomeBuild dbSNPBuild) |
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| Line 2: | Line 2: | ||
|rsid=587777077 | |rsid=587777077 | ||
|Chromosome=18 | |Chromosome=18 | ||
| − | |Orientation= | + | |Orientation=plus |
|geno1=(-;-) | |geno1=(-;-) | ||
| − | |geno2=(-; | + | |geno2=(-;CTT) |
| − | |geno3=( | + | |geno3=(CTT;CTT) |
|Gene=PIEZO2 | |Gene=PIEZO2 | ||
|position=10671605 | |position=10671605 | ||
|Gene_s=PIEZO2 | |Gene_s=PIEZO2 | ||
| − | |Assembly=GRCh38 | + | |Assembly=GRCh38.p7 |
| − | |GenomeBuild=38. | + | |GenomeBuild=38.3 |
| − | |dbSNPBuild= | + | |dbSNPBuild=150 |
|StabilizedOrientation=minus | |StabilizedOrientation=minus | ||
}}{{ClinVar | }}{{ClinVar | ||
Revision as of 09:40, 17 June 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(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, |
