rs724159993
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (GACTAGAG;GACTAGAG) | 0 | common in clinvar |
| Make rs724159993(-;-) |
| Make rs724159993(-;GACTAGAG) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 18 |
| Position | 10671541 |
| Gene | PIEZO2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs724159993 |
| dbSNP (classic) | rs724159993 |
| ClinGen | rs724159993 |
| ebi | rs724159993 |
| HLI | rs724159993 |
| Exac | rs724159993 |
| Gnomad | rs724159993 |
| Varsome | rs724159993 |
| LitVar | rs724159993 |
| Map | rs724159993 |
| PheGenI | rs724159993 |
| Biobank | rs724159993 |
| 1000 genomes | rs724159993 |
| hgdp | rs724159993 |
| ensembl | rs724159993 |
| geneview | rs724159993 |
| scholar | rs724159993 |
| rs724159993 | |
| pharmgkb | rs724159993 |
| gwascentral | rs724159993 |
| openSNP | rs724159993 |
| 23andMe | rs724159993 |
| SNPshot | rs724159993 |
| SNPdbe | rs724159993 |
| MSV3d | rs724159993 |
| GWAS Ctlg | rs724159993 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs724159993(-;-) |
| Alt | rs724159993(-;-) |
| Reference | Rs724159993(GACTAGAG;GACTAGAG) |
| Significance | Pathogenic |
| Disease | Gordon's syndrome |
| Variation | info |
| Gene | PIEZO2 |
| CLNDBN | Gordon's syndrome |
| Reversed | 1 |
| HGVS | NC_000018.9:g.10671538_10671545delCTCTAGTC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000125477.4, |
