rs1130866
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | 0 | normal |
| (T;T) | if sclerotic, reduced risk of lung disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 85666618 |
| Gene | SFTPB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1130866 |
| dbSNP (classic) | rs1130866 |
| ClinGen | rs1130866 |
| ebi | rs1130866 |
| HLI | rs1130866 |
| Exac | rs1130866 |
| Gnomad | rs1130866 |
| Varsome | rs1130866 |
| LitVar | rs1130866 |
| Map | rs1130866 |
| PheGenI | rs1130866 |
| Biobank | rs1130866 |
| 1000 genomes | rs1130866 |
| hgdp | rs1130866 |
| ensembl | rs1130866 |
| geneview | rs1130866 |
| scholar | rs1130866 |
| rs1130866 | |
| pharmgkb | rs1130866 |
| gwascentral | rs1130866 |
| openSNP | rs1130866 |
| 23andMe | rs1130866 |
| SNPshot | rs1130866 |
| SNPdbe | rs1130866 |
| MSV3d | rs1130866 |
| GWAS Ctlg | rs1130866 |
| GMAF | 0.4913 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs1130866 is a SNP altering an amino acid at position 131 of the pulmonary-associated protein B surfactant SFTPB gene. On it's own, it does not affect the odds of acquiring systemic sclerosis.
However, in a study of 127 Japanese patients who already had systemic sclerosis, rs1130866(T;T) homozygotes were found to be at reduced risk for interstitial lung disease.[PMID 18263595]
[PMID 21283003] The influence of genetic variation in surfactant protein B on severe lung injury in black children
[PMID 17054776
] The genetics of chronic obstructive pulmonary disease.
[PMID 17498296] Surfactant protein B polymorphisms are associated with severe respiratory syncytial virus infection, but not with asthma.
[PMID 17540055] No association between coding polymorphism within Exon 4 of the human surfactant protein B gene and pulmonary function in healthy men.
[PMID 18550614] Polymorphic variation in surfactant protein B is associated with COPD exacerbations.
[PMID 18776725] Developmental and genetic regulation of human surfactant protein B in vivo.
[PMID 20233420] Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation.
[PMID 20693256] Surfactant protein B polymorphisms, pulmonary function and COPD in 10,231 individuals.
[PMID 24337193] Surfactant protein B gene polymorphism is associated with severe influenza
| ClinVar | |
|---|---|
| Risk | Rs1130866(T;T) |
| Alt | Rs1130866(T;T) |
| Reference | Rs1130866(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Pulmonary Surfactant Metabolism Dysfunction |
| Variation | info |
| Gene | SFTPB |
| CLNDBN | not specified Pulmonary Surfactant Metabolism Dysfunction, Recessive |
| Reversed | 1 |
| HGVS | NC_000002.11:g.85893741G>A |
| CLNSRC | |
| CLNACC | RCV000151850.2, RCV000263751.1, |
[PMID 33469544] SNP and Haplotype Interaction Models Reveal Association of Surfactant Protein Gene Polymorphisms With Hypersensitivity Pneumonitis of Mexican Population.
