rs878853136
From SNPedia
| Merged into | rs587777077 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AGA;AGA) | 0 | common in clinvar |
| Make rs878853136(-;-) |
| Make rs878853136(-;AGA) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 18 |
| Position | 10671603 |
| Gene | PIEZO2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs878853136 |
| dbSNP (classic) | rs878853136 |
| ClinGen | rs878853136 |
| ebi | rs878853136 |
| HLI | rs878853136 |
| Exac | rs878853136 |
| Gnomad | rs878853136 |
| Varsome | rs878853136 |
| LitVar | rs878853136 |
| Map | rs878853136 |
| PheGenI | rs878853136 |
| Biobank | rs878853136 |
| 1000 genomes | rs878853136 |
| hgdp | rs878853136 |
| ensembl | rs878853136 |
| geneview | rs878853136 |
| scholar | rs878853136 |
| rs878853136 | |
| pharmgkb | rs878853136 |
| gwascentral | rs878853136 |
| openSNP | rs878853136 |
| 23andMe | rs878853136 |
| SNPshot | rs878853136 |
| SNPdbe | rs878853136 |
| MSV3d | rs878853136 |
| GWAS Ctlg | rs878853136 |
| Status | Merged into rs587777077 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs878853136(AGA;AGA) |
| 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, |
