rs114733570
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs114733570(A;A) |
| Make rs114733570(A;C) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 152315363 |
| Gene | FLG, FLG-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs114733570 |
| dbSNP (classic) | rs114733570 |
| ClinGen | rs114733570 |
| ebi | rs114733570 |
| HLI | rs114733570 |
| Exac | rs114733570 |
| Gnomad | rs114733570 |
| Varsome | rs114733570 |
| LitVar | rs114733570 |
| Map | rs114733570 |
| PheGenI | rs114733570 |
| Biobank | rs114733570 |
| 1000 genomes | rs114733570 |
| hgdp | rs114733570 |
| ensembl | rs114733570 |
| geneview | rs114733570 |
| scholar | rs114733570 |
| rs114733570 | |
| pharmgkb | rs114733570 |
| gwascentral | rs114733570 |
| openSNP | rs114733570 |
| 23andMe | rs114733570 |
| SNPshot | rs114733570 |
| SNPdbe | rs114733570 |
| MSV3d | rs114733570 |
| GWAS Ctlg | rs114733570 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs114733570(A;A) |
| Alt | rs114733570(A;A) |
| Reference | Rs114733570(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | FLG FLG-AS1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.152287839C>A |
| CLNSRC | |
| CLNACC | RCV000300225.1, |
The E32X pathogenic variant in the FLG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The E32X variant is observed in 21/66,714 (0.032%) alleles from individuals of European (non-Finnish) background in the ExAC dataset (Lek et al., 2016). We interpret E32X as a variant of uncertain significance. [1]
