rs2303067
| asthma and atopic dermatitis |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.8x risk | |
| (A;G) | ? | |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 148101392 |
| Gene | SPINK5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2303067 |
| dbSNP (classic) | rs2303067 |
| ClinGen | rs2303067 |
| ebi | rs2303067 |
| HLI | rs2303067 |
| Exac | rs2303067 |
| Gnomad | rs2303067 |
| Varsome | rs2303067 |
| LitVar | rs2303067 |
| Map | rs2303067 |
| PheGenI | rs2303067 |
| Biobank | rs2303067 |
| 1000 genomes | rs2303067 |
| hgdp | rs2303067 |
| ensembl | rs2303067 |
| geneview | rs2303067 |
| scholar | rs2303067 |
| rs2303067 | |
| pharmgkb | rs2303067 |
| gwascentral | rs2303067 |
| openSNP | rs2303067 |
| 23andMe | rs2303067 |
| SNPshot | rs2303067 |
| SNPdbe | rs2303067 |
| MSV3d | rs2303067 |
| GWAS Ctlg | rs2303067 |
| GMAF | 0.4284 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2303067, a SNP in the SPINK5 gene, has been significantly associated with susceptibility to atopic dermatitis. [PMID 11544479]
The risk allele for rs2303067 is (A).
rs2303067 has also been associated with predisposition to asthma, [PMID 15005725]. From this study: "A significant association between rs2303067 and the development of asthma was observed (OR 1.77; 95%CI: 1.02-3.06, P=0.041 for rs2303067(A;A) homozygotes). Atopic carriers of rs2303067 showed an increased risk for asthma and asthma symptoms (OR 2.06; 95%CI: 1.01-4.20, P=0.047). When children with a combination of asthma and atopic dermatitis were compared with normal controls, the rs2303067(A) genotype was more prevalent in the disease group (OR 4.56; 95%CI: 1.370-15.12, P=0.007)."
| ClinVar | |
|---|---|
| Risk | Rs2303067(G;G) |
| Alt | Rs2303067(G;G) |
| Reference | Rs2303067(A;A) |
| Significance | Other |
| Disease | Atopy Dermatitis Asthma not specified Netherton syndrome |
| Variation | info |
| Gene | SPINK5 |
| CLNDBN | Atopy, susceptibility to Dermatitis, atopic, 6, susceptibility to Asthma, susceptibility to not specified Netherton syndrome |
| Reversed | 0 |
| HGVS | NC_000005.9:g.147480955A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005585.2, RCV000005586.2, RCV000005587.2, RCV000248431.2, RCV000299337.1, |
[PMID 16519819
] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
[PMID 18704161] Genetic variation in an individual human exome.
[PMID 18774391] Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk.
