rs721917
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs721917(C;C) |
| Make rs721917(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 79946568 |
| Gene | SFTPD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs721917 |
| dbSNP (classic) | rs721917 |
| ClinGen | rs721917 |
| ebi | rs721917 |
| HLI | rs721917 |
| Exac | rs721917 |
| Gnomad | rs721917 |
| Varsome | rs721917 |
| LitVar | rs721917 |
| Map | rs721917 |
| PheGenI | rs721917 |
| Biobank | rs721917 |
| 1000 genomes | rs721917 |
| hgdp | rs721917 |
| ensembl | rs721917 |
| geneview | rs721917 |
| scholar | rs721917 |
| rs721917 | |
| pharmgkb | rs721917 |
| gwascentral | rs721917 |
| openSNP | rs721917 |
| 23andMe | rs721917 |
| SNPshot | rs721917 |
| SNPdbe | rs721917 |
| MSV3d | rs721917 |
| GWAS Ctlg | rs721917 |
| GMAF | 0.4683 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21934714
] Involvement of surfactant protein D in emphysema revealed by genetic association study
[PMID 22509983] Association Between Genetic Variations In Surfactant Protein D and Emphysema, Interstitial Pneumonia, and Lung Cancer in a Japanese Population
[PMID 16846490] Lemierre's syndrome and genetic polymorphisms: a case report.
[PMID 20018039] Associating multiple longitudinal traits with high-dimensional single-nucleotide polymorphism data: application to the Framingham Heart Study.
[PMID 20448057] Polymorphisms in surfactant protein-D are associated with chronic obstructive pulmonary disease.
[PMID 21790524] Genetic variants and monoallelic expression of surfactant protein-D in inflammatory bowel disease.
[PMID 23577114] Common Genetic Variants of Surfactant Protein-D (SP-D) Are Associated with Type 2 Diabetes
[PMID 25015576] Surfactant Protein-D-Encoding Gene Variant Polymorphisms Are Linked to Respiratory Outcome in Premature Infants
| ClinVar | |
|---|---|
| Risk | rs721917(C;C) |
| Alt | rs721917(C;C) |
| Reference | Rs721917(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | SFTPD |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000010.10:g.81706324A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000151865.2, |
[PMID 26748346] Association between the surfactant protein D (SFTPD) gene and subclinical carotid artery atherosclerosis.
[PMID 27654735] SNP rs3088308 is a risk factor for poor lung function in healthy smokers.
[PMID 33469544] SNP and Haplotype Interaction Models Reveal Association of Surfactant Protein Gene Polymorphisms With Hypersensitivity Pneumonitis of Mexican Population.
