rs753009073
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;T) | 5 | Birt-Hogg-Dube Syndrome |
| (D;D) | 0 | common genotype |
| Make rs753009073(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 17 |
| Position | 17213815 |
| Gene | FLCN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs753009073 |
| dbSNP (classic) | rs753009073 |
| ClinGen | rs753009073 |
| ebi | rs753009073 |
| HLI | rs753009073 |
| Exac | rs753009073 |
| Gnomad | rs753009073 |
| Varsome | rs753009073 |
| LitVar | rs753009073 |
| Map | rs753009073 |
| PheGenI | rs753009073 |
| Biobank | rs753009073 |
| 1000 genomes | rs753009073 |
| hgdp | rs753009073 |
| ensembl | rs753009073 |
| geneview | rs753009073 |
| scholar | rs753009073 |
| rs753009073 | |
| pharmgkb | rs753009073 |
| gwascentral | rs753009073 |
| openSNP | rs753009073 |
| 23andMe | rs753009073 |
| SNPshot | rs753009073 |
| SNPdbe | rs753009073 |
| MSV3d | rs753009073 |
| GWAS Ctlg | rs753009073 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs753009073(T;T) |
| Alt | rs753009073(T;T) |
| Reference | Rs753009073(-;-) |
| Significance | Pathogenic |
| Disease | Multiple fibrofolliculomas |
| Variation | info |
| Gene | FLCN LOC101928660 |
| CLNDBN | Multiple fibrofolliculomas |
| Reversed | 0 |
| HGVS | NC_000017.10:g.17117129_17117130insT |
| CLNSRC | |
| CLNACC | RCV000239620.1, |
