rs11891778
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs11891778(C;C) |
| Make rs11891778(C;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 215045850 |
| Gene | ABCA12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11891778 |
| dbSNP (classic) | rs11891778 |
| ClinGen | rs11891778 |
| ebi | rs11891778 |
| HLI | rs11891778 |
| Exac | rs11891778 |
| Gnomad | rs11891778 |
| Varsome | rs11891778 |
| LitVar | rs11891778 |
| Map | rs11891778 |
| PheGenI | rs11891778 |
| Biobank | rs11891778 |
| 1000 genomes | rs11891778 |
| hgdp | rs11891778 |
| ensembl | rs11891778 |
| geneview | rs11891778 |
| scholar | rs11891778 |
| rs11891778 | |
| pharmgkb | rs11891778 |
| gwascentral | rs11891778 |
| openSNP | rs11891778 |
| 23andMe | rs11891778 |
| SNPshot | rs11891778 |
| SNPdbe | rs11891778 |
| MSV3d | rs11891778 |
| GWAS Ctlg | rs11891778 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs11891778(A;A) rs11891778(C;C) |
| Alt | rs11891778(A;A) rs11891778(C;C) |
| Reference | Rs11891778(G;G) |
| Significance | Pathogenic |
| Disease | not provided Congenital ichthyosiform erythroderma |
| Variation | info |
| Gene | ABCA12 |
| CLNDBN | not provided Congenital ichthyosiform erythroderma |
| Reversed | 0 |
| HGVS | NC_000002.11:g.215910574G>A; NC_000002.11:g.215910574G>C |
| CLNSRC | Illumina |
| CLNACC | RCV000255175.1, RCV000224893.1, RCV000293566.1, |
