rs758175953
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 5 | Birt-Hogg-Dube Syndrome |
| Make rs758175953(A;A) |
| Make rs758175953(A;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 17 |
| Position | 17222500 |
| Gene | FLCN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs758175953 |
| dbSNP (classic) | rs758175953 |
| ClinGen | rs758175953 |
| ebi | rs758175953 |
| HLI | rs758175953 |
| Exac | rs758175953 |
| Gnomad | rs758175953 |
| Varsome | rs758175953 |
| LitVar | rs758175953 |
| Map | rs758175953 |
| PheGenI | rs758175953 |
| Biobank | rs758175953 |
| 1000 genomes | rs758175953 |
| hgdp | rs758175953 |
| ensembl | rs758175953 |
| geneview | rs758175953 |
| scholar | rs758175953 |
| rs758175953 | |
| pharmgkb | rs758175953 |
| gwascentral | rs758175953 |
| openSNP | rs758175953 |
| 23andMe | rs758175953 |
| SNPshot | rs758175953 |
| SNPdbe | rs758175953 |
| MSV3d | rs758175953 |
| GWAS Ctlg | rs758175953 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs758175953(A;A) |
| Alt | rs758175953(A;A) |
| Reference | Rs758175953(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas not provided |
| Variation | info |
| Gene | FLCN |
| CLNDBN | Hereditary cancer-predisposing syndrome Multiple fibrofolliculomas not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.17125814C>A; NC_000017.10:g.17125814C>G |
| CLNSRC | |
| CLNACC | RCV000218992.2, RCV000239675.1, RCV000255322.1, RCV000492125.1, |
