rs144478519
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs144478519(C;T) |
| Make rs144478519(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 113062547 |
| Gene | IL36RN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144478519 |
| dbSNP (classic) | rs144478519 |
| ClinGen | rs144478519 |
| ebi | rs144478519 |
| HLI | rs144478519 |
| Exac | rs144478519 |
| Gnomad | rs144478519 |
| Varsome | rs144478519 |
| LitVar | rs144478519 |
| Map | rs144478519 |
| PheGenI | rs144478519 |
| Biobank | rs144478519 |
| 1000 genomes | rs144478519 |
| hgdp | rs144478519 |
| ensembl | rs144478519 |
| geneview | rs144478519 |
| scholar | rs144478519 |
| rs144478519 | |
| pharmgkb | rs144478519 |
| gwascentral | rs144478519 |
| openSNP | rs144478519 |
| 23andMe | rs144478519 |
| SNPshot | rs144478519 |
| SNPdbe | rs144478519 |
| MSV3d | rs144478519 |
| GWAS Ctlg | rs144478519 |
| GMAF | 0.002296 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs144478519(A;A) rs144478519(T;T) |
| Alt | rs144478519(A;A) rs144478519(T;T) |
| Reference | Rs144478519(C;C) |
| Significance | Pathogenic |
| Disease | Pustular psoriasis |
| Variation | info |
| Gene | IL36RN |
| CLNDBN | Pustular psoriasis, generalized |
| Reversed | 0 |
| HGVS | NC_000002.11:g.113820124C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023447.3, |
