rs558699420
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Birt-Hogg-Dube Syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs558699420(G;T) |
| Make rs558699420(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 17 |
| Position | 17222646 |
| Gene | FLCN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs558699420 |
| dbSNP (classic) | rs558699420 |
| ClinGen | rs558699420 |
| ebi | rs558699420 |
| HLI | rs558699420 |
| Exac | rs558699420 |
| Gnomad | rs558699420 |
| Varsome | rs558699420 |
| LitVar | rs558699420 |
| Map | rs558699420 |
| PheGenI | rs558699420 |
| Biobank | rs558699420 |
| 1000 genomes | rs558699420 |
| hgdp | rs558699420 |
| ensembl | rs558699420 |
| geneview | rs558699420 |
| scholar | rs558699420 |
| rs558699420 | |
| pharmgkb | rs558699420 |
| gwascentral | rs558699420 |
| openSNP | rs558699420 |
| 23andMe | rs558699420 |
| SNPshot | rs558699420 |
| SNPdbe | rs558699420 |
| MSV3d | rs558699420 |
| GWAS Ctlg | rs558699420 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs558699420(A;A) rs558699420(T;T) |
| Alt | rs558699420(A;A) rs558699420(T;T) |
| Reference | Rs558699420(G;G) |
| Significance | Pathogenic |
| Disease | Multiple fibrofolliculomas |
| Variation | info |
| Gene | FLCN |
| CLNDBN | Multiple fibrofolliculomas |
| Reversed | 0 |
| HGVS | NC_000017.10:g.17125960G>A |
| CLNSRC | |
| CLNACC | RCV000239615.1, |
