rs761212672
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 4 | Ichthyosis vulgaris (dry, scaly skin) |
| Make rs761212672(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 152304999 |
| Gene | FLG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs761212672 |
| dbSNP (classic) | rs761212672 |
| ClinGen | rs761212672 |
| ebi | rs761212672 |
| HLI | rs761212672 |
| Exac | rs761212672 |
| Gnomad | rs761212672 |
| Varsome | rs761212672 |
| LitVar | rs761212672 |
| Map | rs761212672 |
| PheGenI | rs761212672 |
| Biobank | rs761212672 |
| 1000 genomes | rs761212672 |
| hgdp | rs761212672 |
| ensembl | rs761212672 |
| geneview | rs761212672 |
| scholar | rs761212672 |
| rs761212672 | |
| pharmgkb | rs761212672 |
| gwascentral | rs761212672 |
| openSNP | rs761212672 |
| 23andMe | rs761212672 |
| SNPshot | rs761212672 |
| SNPdbe | rs761212672 |
| MSV3d | rs761212672 |
| GWAS Ctlg | rs761212672 |
| Max Magnitude | 4 |
aka c.9887C>A (p.Ser3296Ter)
| ClinVar | |
|---|---|
| Risk | rs761212672(T;T) |
| Alt | rs761212672(T;T) |
| Reference | Rs761212672(G;G) |
| Significance | Pathogenic |
| Disease | Ichthyosis vulgaris |
| Variation | info |
| Gene | FLG |
| CLNDBN | Ichthyosis vulgaris |
| Reversed | 0 |
| HGVS | NC_000001.10:g.152277475G>T |
| CLNSRC | |
| CLNACC | RCV000490523.1, |
