rs199692405
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 4.9 | severe eczema possible |
| (G;T) | 4.9 | severe eczema possible |
| (T;T) | 0 | common/normal |
| Make rs199692405(C;C) |
| Make rs199692405(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 2947624 |
| Gene | CARD11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199692405 |
| dbSNP (classic) | rs199692405 |
| ClinGen | rs199692405 |
| ebi | rs199692405 |
| HLI | rs199692405 |
| Exac | rs199692405 |
| Gnomad | rs199692405 |
| Varsome | rs199692405 |
| LitVar | rs199692405 |
| Map | rs199692405 |
| PheGenI | rs199692405 |
| Biobank | rs199692405 |
| 1000 genomes | rs199692405 |
| hgdp | rs199692405 |
| ensembl | rs199692405 |
| geneview | rs199692405 |
| scholar | rs199692405 |
| rs199692405 | |
| pharmgkb | rs199692405 |
| gwascentral | rs199692405 |
| openSNP | rs199692405 |
| 23andMe | rs199692405 |
| SNPshot | rs199692405 |
| SNPdbe | rs199692405 |
| MSV3d | rs199692405 |
| GWAS Ctlg | rs199692405 |
| Max Magnitude | 4.9 |
rs199692405 is a SNP in the CARD11 gene on chromosome 7. The c.171A>G variant is a synonymous variant of no known importance.
The A>T and A>C are (in cDNA orientation, not dbSNP orientation) mutations leading to a dominant, mutant protein known as p.Glu57Asp (E57D), which is reported to be pathogenic for an atopic dermatitis, otherwise known as severe eczema.10.1038/ng.3898
