rs2305480
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal | |
| (C;T) | 2 | 3.5x increase in risk of asthma for Han Chinese |
| (T;T) | 2 | if 4 years old or younger, ~3x increased asthma risk if exposed to smoke |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 39905943 |
| Gene | GSDMB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2305480 |
| dbSNP (classic) | rs2305480 |
| ClinGen | rs2305480 |
| ebi | rs2305480 |
| HLI | rs2305480 |
| Exac | rs2305480 |
| Gnomad | rs2305480 |
| Varsome | rs2305480 |
| LitVar | rs2305480 |
| Map | rs2305480 |
| PheGenI | rs2305480 |
| Biobank | rs2305480 |
| 1000 genomes | rs2305480 |
| hgdp | rs2305480 |
| ensembl | rs2305480 |
| geneview | rs2305480 |
| scholar | rs2305480 |
| rs2305480 | |
| pharmgkb | rs2305480 |
| gwascentral | rs2305480 |
| openSNP | rs2305480 |
| 23andMe | rs2305480 |
| SNPshot | rs2305480 |
| SNPdbe | rs2305480 |
| MSV3d | rs2305480 |
| GWAS Ctlg | rs2305480 |
| GMAF | 0.3283 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2305480 is one of several SNPs from a region on chromosome 17q21 that has been linked to risk for asthma.
A total of 651 French patients with asthma, from among 1,621 subjects in 388 families, were analyzed for SNPs in the (17q21) region. An association was found between this SNP and early-onset asthma (but not with later onset asthma) which was significant after correction at p < 0.001. Upon further study, this association was seen primarily only in children exposed to tobacco smoke. The odds ratio was 2.77, based on the most likely assumption that this risk is associated only with the recessive homozygous state (and not the heterozygous state, which is still possible). [PMID 18923164
]
| GWAS snp | |
|---|---|
| PMID | [PMID 20228799]
|
| Trait | Ulcerative colitis |
| Title | Genome-wide association identifies multiple ulcerative colitis susceptibility loci |
| Risk Allele | A |
| P-val | 3E-8 |
| Odds Ratio | 1.15 [NR] |
| GWAS snp | |
|---|---|
| PMID | [PMID 20860503]
|
| Trait | |
| Title | A large-scale, consortium-based genomewide association study of asthma |
| Risk Allele | G |
| P-val | 1E-7 |
| Odds Ratio | 1.18 [1.11-1.23] |
[PMID 22469062] Interaction of a 17q12 variant with both fetal and infant smoke exposure in the development of childhood asthma-like symptoms: Epidemiology and Genetics
[PMID 22370936] Genetic variants on 17q21 are associated with asthma in a Han Chinese population
[PMID 19458352] Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 21304977] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.
[PMID 21506939] Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort.
[PMID 23154084] Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes
[PMID 23028483] Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.
| GWAS snp | |
|---|---|
| PMID | [PMID 24241537] |
| Trait | Asthma (childhood, severe) |
| Title | A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. |
| Risk Allele | G |
| P-val | 6E-23 |
| Odds Ratio | 1.32 [1.23-1.39] |
[PMID 26493291] Polymorphisms of RAD50, IL33 and IL1RL1 are associated with atopic asthma in Chinese population
[PMID 27163155] Polymorphisms and Haplotypes of the Chromosome Locus 17q12-17q21.1 Contribute to Adult Asthma Susceptibility in Slovenian Patients.
[PMID 28461288] A meta-analysis of genome-wide association studies of asthma in Puerto Ricans.
[PMID 33535024] Chromosome 17q12-21 Variants are Associated with Multiple Wheezing Phenotypes in Childhood.
