rs28374544
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs28374544(A;G) |
| Make rs28374544(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 105802051 |
| Gene | ZFPM2, ZFPM2-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28374544 |
| dbSNP (classic) | rs28374544 |
| ClinGen | rs28374544 |
| ebi | rs28374544 |
| HLI | rs28374544 |
| Exac | rs28374544 |
| Gnomad | rs28374544 |
| Varsome | rs28374544 |
| LitVar | rs28374544 |
| Map | rs28374544 |
| PheGenI | rs28374544 |
| Biobank | rs28374544 |
| 1000 genomes | rs28374544 |
| hgdp | rs28374544 |
| ensembl | rs28374544 |
| geneview | rs28374544 |
| scholar | rs28374544 |
| rs28374544 | |
| pharmgkb | rs28374544 |
| gwascentral | rs28374544 |
| openSNP | rs28374544 |
| 23andMe | rs28374544 |
| SNPshot | rs28374544 |
| SNPdbe | rs28374544 |
| MSV3d | rs28374544 |
| GWAS Ctlg | rs28374544 |
| GMAF | 0.03306 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs28374544(G;G) |
| Alt | rs28374544(G;G) |
| Reference | Rs28374544(A;A) |
| Significance | Pathogenic |
| Disease | Tetralogy of Fallot 46 |
| Variation | info |
| Gene | ZFPM2 ZFPM2-AS1 |
| CLNDBN | Tetralogy of Fallot 46,XY sex reversal 9 |
| Reversed | 0 |
| HGVS | NC_000008.10:g.106814279A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006501.2, RCV000467901.1, |
