rs57749775
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs57749775(C;C) |
| Make rs57749775(C;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 12 |
| Position | 52904822 |
| Gene | KRT8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs57749775 |
| dbSNP (classic) | rs57749775 |
| ClinGen | rs57749775 |
| ebi | rs57749775 |
| HLI | rs57749775 |
| Exac | rs57749775 |
| Gnomad | rs57749775 |
| Varsome | rs57749775 |
| LitVar | rs57749775 |
| Map | rs57749775 |
| PheGenI | rs57749775 |
| Biobank | rs57749775 |
| 1000 genomes | rs57749775 |
| hgdp | rs57749775 |
| ensembl | rs57749775 |
| geneview | rs57749775 |
| scholar | rs57749775 |
| rs57749775 | |
| pharmgkb | rs57749775 |
| gwascentral | rs57749775 |
| openSNP | rs57749775 |
| 23andMe | rs57749775 |
| SNPshot | rs57749775 |
| SNPdbe | rs57749775 |
| MSV3d | rs57749775 |
| GWAS Ctlg | rs57749775 |
| GMAF | 0.002755 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs57749775(A;A) rs57749775(C;C) |
| Alt | rs57749775(A;A) rs57749775(C;C) |
| Reference | Rs57749775(T;T) |
| Significance | Pathogenic |
| Disease | Cirrhosis not provided |
| Variation | info |
| Gene | KRT8 |
| CLNDBN | Cirrhosis, cryptogenic not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.53298606A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000015737.25, RCV000056936.1, |
