rs28940568
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 2 | Rs28940568 |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 214978830 |
| Gene | ABCA12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28940568 |
| dbSNP (classic) | rs28940568 |
| ClinGen | rs28940568 |
| ebi | rs28940568 |
| HLI | rs28940568 |
| Exac | rs28940568 |
| Gnomad | rs28940568 |
| Varsome | rs28940568 |
| LitVar | rs28940568 |
| Map | rs28940568 |
| PheGenI | rs28940568 |
| Biobank | rs28940568 |
| 1000 genomes | rs28940568 |
| hgdp | rs28940568 |
| ensembl | rs28940568 |
| geneview | rs28940568 |
| scholar | rs28940568 |
| rs28940568 | |
| pharmgkb | rs28940568 |
| gwascentral | rs28940568 |
| openSNP | rs28940568 |
| 23andMe | rs28940568 |
| SNPshot | rs28940568 |
| SNPdbe | rs28940568 |
| MSV3d | rs28940568 |
| GWAS Ctlg | rs28940568 |
| Max Magnitude | 2 |
This is a recessive SNP for congenital Lamellar ichthyosis, type 2, also called ichthyosis-4A, a significant skin condition.
| ClinVar | |
|---|---|
| Risk | Rs28940568(A;A) |
| Alt | Rs28940568(A;A) |
| Reference | Rs28940568(G;G) |
| Significance | Pathogenic |
| Disease | Autosomal recessive congenital ichthyosis 4A |
| Variation | info |
| Gene | ABCA12 |
| CLNDBN | Autosomal recessive congenital ichthyosis 4A |
| Reversed | 1 |
| HGVS | NC_000002.11:g.215843554C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002990.2, |
