rs61218439
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs61218439(A;T) |
| Make rs61218439(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 52676315 |
| Gene | KRT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61218439 |
| dbSNP (classic) | rs61218439 |
| ClinGen | rs61218439 |
| ebi | rs61218439 |
| HLI | rs61218439 |
| Exac | rs61218439 |
| Gnomad | rs61218439 |
| Varsome | rs61218439 |
| LitVar | rs61218439 |
| Map | rs61218439 |
| PheGenI | rs61218439 |
| Biobank | rs61218439 |
| 1000 genomes | rs61218439 |
| hgdp | rs61218439 |
| ensembl | rs61218439 |
| geneview | rs61218439 |
| scholar | rs61218439 |
| rs61218439 | |
| pharmgkb | rs61218439 |
| gwascentral | rs61218439 |
| openSNP | rs61218439 |
| 23andMe | rs61218439 |
| SNPshot | rs61218439 |
| SNPdbe | rs61218439 |
| MSV3d | rs61218439 |
| GWAS Ctlg | rs61218439 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61218439(G;G) rs61218439(T;T) |
| Alt | rs61218439(G;G) rs61218439(T;T) |
| Reference | Rs61218439(A;A) |
| Significance | Pathogenic |
| Disease | Ichthyosis not provided |
| Variation | info |
| Gene | KRT1 |
| CLNDBN | Ichthyosis, cyclic, with epidermolytic hyperkeratosis not provided |
| Reversed | 1 |
| HGVS | NC_000012.11:g.53070099T>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017263.27, RCV000057062.1, |
