rs587777077
From SNPedia
| 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, |
