rs2303064
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs2303064(A;A) |
| Make rs2303064(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 148100517 |
| Gene | SPINK5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2303064 |
| dbSNP (classic) | rs2303064 |
| ClinGen | rs2303064 |
| ebi | rs2303064 |
| HLI | rs2303064 |
| Exac | rs2303064 |
| Gnomad | rs2303064 |
| Varsome | rs2303064 |
| LitVar | rs2303064 |
| Map | rs2303064 |
| PheGenI | rs2303064 |
| Biobank | rs2303064 |
| 1000 genomes | rs2303064 |
| hgdp | rs2303064 |
| ensembl | rs2303064 |
| geneview | rs2303064 |
| scholar | rs2303064 |
| rs2303064 | |
| pharmgkb | rs2303064 |
| gwascentral | rs2303064 |
| openSNP | rs2303064 |
| 23andMe | rs2303064 |
| SNPshot | rs2303064 |
| SNPdbe | rs2303064 |
| MSV3d | rs2303064 |
| GWAS Ctlg | rs2303064 |
| GMAF | 0.3021 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2303064, a SNP in the SPINK5 gene, has been associated with susceptibility to atopic dermatitis. [PMID 11544479]
[PMID 16519819
] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.
[PMID 21087323] Hint for association of single nucleotide polymorphisms and haplotype in SPINK5 gene with atopic dermatitis in Koreans.
| ClinVar | |
|---|---|
| Risk | rs2303064(A;A) |
| Alt | rs2303064(A;A) |
| Reference | Rs2303064(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Netherton syndrome |
| Variation | info |
| Gene | SPINK5 |
| CLNDBN | not specified Netherton syndrome |
| Reversed | 0 |
| HGVS | NC_000005.9:g.147480080G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000128219.2, RCV000303587.1, |
