rs4715
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs4715(A;A) |
| Make rs4715(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 22163524 |
| Gene | BMP1, SFTPC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4715 |
| dbSNP (classic) | rs4715 |
| ClinGen | rs4715 |
| ebi | rs4715 |
| HLI | rs4715 |
| Exac | rs4715 |
| Gnomad | rs4715 |
| Varsome | rs4715 |
| LitVar | rs4715 |
| Map | rs4715 |
| PheGenI | rs4715 |
| Biobank | rs4715 |
| 1000 genomes | rs4715 |
| hgdp | rs4715 |
| ensembl | rs4715 |
| geneview | rs4715 |
| scholar | rs4715 |
| rs4715 | |
| pharmgkb | rs4715 |
| gwascentral | rs4715 |
| openSNP | rs4715 |
| 23andMe | rs4715 |
| SNPshot | rs4715 |
| SNPdbe | rs4715 |
| MSV3d | rs4715 |
| GWAS Ctlg | rs4715 |
| GMAF | 0.2126 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 19735006] Genetic association of SP-C with duration of preterm premature rupture of fetal membranes and expression in gestational tissues
| ClinVar | |
|---|---|
| Risk | rs4715(A;A) |
| Alt | rs4715(A;A) |
| Reference | Rs4715(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Pulmonary Surfactant Metabolism Dysfunction Osteogenesis Imperfecta Idiopathic fibrosing alveolitis |
| Variation | info |
| Gene | SFTPC BMP1 |
| CLNDBN | not specified Pulmonary Surfactant Metabolism Dysfunction, Dominant Osteogenesis Imperfecta, Recessive Idiopathic fibrosing alveolitis, chronic form |
| Reversed | 0 |
| HGVS | NC_000008.10:g.22021037C>A |
| CLNSRC | |
| CLNACC | RCV000151856.1, RCV000289134.1, RCV000311252.1, RCV000387624.1, |
[PMID 32326132
] Association of SNP-SNP Interactions of Surfactant Protein Genes with Pediatric Acute Respiratory Failure.
