rs141784184
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 4 | Ichthyosis vulgaris (dry, scaly skin) |
| Make rs141784184(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 152309169 |
| Gene | FLG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs141784184 |
| dbSNP (classic) | rs141784184 |
| ClinGen | rs141784184 |
| ebi | rs141784184 |
| HLI | rs141784184 |
| Exac | rs141784184 |
| Gnomad | rs141784184 |
| Varsome | rs141784184 |
| LitVar | rs141784184 |
| Map | rs141784184 |
| PheGenI | rs141784184 |
| Biobank | rs141784184 |
| 1000 genomes | rs141784184 |
| hgdp | rs141784184 |
| ensembl | rs141784184 |
| geneview | rs141784184 |
| scholar | rs141784184 |
| rs141784184 | |
| pharmgkb | rs141784184 |
| gwascentral | rs141784184 |
| openSNP | rs141784184 |
| 23andMe | rs141784184 |
| SNPshot | rs141784184 |
| SNPdbe | rs141784184 |
| MSV3d | rs141784184 |
| GWAS Ctlg | rs141784184 |
| Max Magnitude | 4 |
aka c.5717C>A (p.Ser1906Ter)
| ClinVar | |
|---|---|
| Risk | rs141784184(A;A) rs141784184(T;T) |
| Alt | rs141784184(A;A) rs141784184(T;T) |
| Reference | Rs141784184(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Ichthyosis vulgaris |
| Variation | info |
| Gene | FLG |
| CLNDBN | Ichthyosis vulgaris |
| Reversed | 0 |
| HGVS | NC_000001.10:g.152281645G>T |
| CLNSRC | |
| CLNACC | RCV000490339.1, |
