rs398124524
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Birt-Hogg-Dube Syndrome |
| Make rs398124524(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 17217128 |
| Gene | FLCN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398124524 |
| dbSNP (classic) | rs398124524 |
| ClinGen | rs398124524 |
| ebi | rs398124524 |
| HLI | rs398124524 |
| Exac | rs398124524 |
| Gnomad | rs398124524 |
| Varsome | rs398124524 |
| LitVar | rs398124524 |
| Map | rs398124524 |
| PheGenI | rs398124524 |
| Biobank | rs398124524 |
| 1000 genomes | rs398124524 |
| hgdp | rs398124524 |
| ensembl | rs398124524 |
| geneview | rs398124524 |
| scholar | rs398124524 |
| rs398124524 | |
| pharmgkb | rs398124524 |
| gwascentral | rs398124524 |
| openSNP | rs398124524 |
| 23andMe | rs398124524 |
| SNPshot | rs398124524 |
| SNPdbe | rs398124524 |
| MSV3d | rs398124524 |
| GWAS Ctlg | rs398124524 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs398124524(A;A) rs398124524(T;T) |
| Alt | rs398124524(A;A) rs398124524(T;T) |
| Reference | Rs398124524(C;C) |
| Significance | Pathogenic |
| Disease | not provided Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | FLCN LOC101928660 |
| CLNDBN | not provided Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.17120442G>A |
| CLNSRC | ClinVar Emory University |
| CLNACC | RCV000082619.6, RCV000165348.1, |
