rs1060499587
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;ACAGG) | 4 | Ichthyosis vulgaris (dry, scaly skin) |
| (ACAGG;ACAGG) | 0 | common in clinvar |
| Make rs1060499587(-;-) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 152313983 |
| Gene | FLG, FLG-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1060499587 |
| dbSNP (classic) | rs1060499587 |
| ClinGen | rs1060499587 |
| ebi | rs1060499587 |
| HLI | rs1060499587 |
| Exac | rs1060499587 |
| Gnomad | rs1060499587 |
| Varsome | rs1060499587 |
| LitVar | rs1060499587 |
| Map | rs1060499587 |
| PheGenI | rs1060499587 |
| Biobank | rs1060499587 |
| 1000 genomes | rs1060499587 |
| hgdp | rs1060499587 |
| ensembl | rs1060499587 |
| geneview | rs1060499587 |
| scholar | rs1060499587 |
| rs1060499587 | |
| pharmgkb | rs1060499587 |
| gwascentral | rs1060499587 |
| openSNP | rs1060499587 |
| 23andMe | rs1060499587 |
| SNPshot | rs1060499587 |
| SNPdbe | rs1060499587 |
| MSV3d | rs1060499587 |
| GWAS Ctlg | rs1060499587 |
| Max Magnitude | 4 |
aka c.899_903del (p.Asp300fs)
| ClinVar | |
|---|---|
| Risk | rs1060499587(-;-) |
| Alt | rs1060499587(-;-) |
| Reference | Rs1060499587(ACAGG;ACAGG) |
| Significance | Probable-Pathogenic |
| Disease | Ichthyosis vulgaris |
| Variation | info |
| Gene | FLG FLG-AS1 |
| CLNDBN | Ichthyosis vulgaris |
| Reversed | 1 |
| HGVS | NC_000001.10:g.152286459_152286463delCCTGT |
| CLNSRC | |
| CLNACC | RCV000477947.1, |
