rs4253527
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common on affy axiom data |
| Make rs4253527(C;T) |
| Make rs4253527(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 79614021 |
| Gene | SFTPA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4253527 |
| dbSNP (classic) | rs4253527 |
| ClinGen | rs4253527 |
| ebi | rs4253527 |
| HLI | rs4253527 |
| Exac | rs4253527 |
| Gnomad | rs4253527 |
| Varsome | rs4253527 |
| LitVar | rs4253527 |
| Map | rs4253527 |
| PheGenI | rs4253527 |
| Biobank | rs4253527 |
| 1000 genomes | rs4253527 |
| hgdp | rs4253527 |
| ensembl | rs4253527 |
| geneview | rs4253527 |
| scholar | rs4253527 |
| rs4253527 | |
| pharmgkb | rs4253527 |
| gwascentral | rs4253527 |
| openSNP | rs4253527 |
| 23andMe | rs4253527 |
| SNPshot | rs4253527 |
| SNPdbe | rs4253527 |
| MSV3d | rs4253527 |
| GWAS Ctlg | rs4253527 |
| GMAF | 0.1299 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs4253527(T;T) |
| Alt | rs4253527(T;T) |
| Reference | Rs4253527(C;C) |
| Significance | Non-pathogenic |
| Disease | Pulmonary fibrosis not specified |
| Variation | info |
| Gene | SFTPA1 |
| CLNDBN | Pulmonary fibrosis, idiopathic, susceptibility to not specified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.81373777C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014093.4, RCV000155577.1, |
[PMID 17407567
] Respiratory symptoms among infants at risk for asthma: association with surfactant protein A haplotypes.
[PMID 18263595] Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease.
[PMID 22528218] Surfactant protein a polymorphism is associated with susceptibility to chronic obstructive pulmonary disease in Chinese Uighur population.
