rs757852728
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs757852728(G;G) |
| Make rs757852728(G;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 39976523 |
| Gene | EIF2AK4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs757852728 |
| dbSNP (classic) | rs757852728 |
| ClinGen | rs757852728 |
| ebi | rs757852728 |
| HLI | rs757852728 |
| Exac | rs757852728 |
| Gnomad | rs757852728 |
| Varsome | rs757852728 |
| LitVar | rs757852728 |
| Map | rs757852728 |
| PheGenI | rs757852728 |
| Biobank | rs757852728 |
| 1000 genomes | rs757852728 |
| hgdp | rs757852728 |
| ensembl | rs757852728 |
| geneview | rs757852728 |
| scholar | rs757852728 |
| rs757852728 | |
| pharmgkb | rs757852728 |
| gwascentral | rs757852728 |
| openSNP | rs757852728 |
| 23andMe | rs757852728 |
| SNPshot | rs757852728 |
| SNPdbe | rs757852728 |
| MSV3d | rs757852728 |
| GWAS Ctlg | rs757852728 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs757852728(G;G) |
| Alt | rs757852728(G;G) |
| Reference | Rs757852728(T;T) |
| Significance | Pathogenic |
| Disease | Familial pulmonary capillary hemangiomatosis |
| Variation | info |
| Gene | EIF2AK4 |
| CLNDBN | Familial pulmonary capillary hemangiomatosis |
| Reversed | 0 |
| HGVS | NC_000015.9:g.40268724T>G |
| CLNSRC | |
| CLNACC | RCV000488861.1, |
