rs781923855
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 8 |
| Position | 144360409 |
| Gene | FBXL6, SLC52A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs781923855 |
| dbSNP (classic) | rs781923855 |
| ClinGen | rs781923855 |
| ebi | rs781923855 |
| HLI | rs781923855 |
| Exac | rs781923855 |
| Gnomad | rs781923855 |
| Varsome | rs781923855 |
| LitVar | rs781923855 |
| Map | rs781923855 |
| PheGenI | rs781923855 |
| Biobank | rs781923855 |
| 1000 genomes | rs781923855 |
| hgdp | rs781923855 |
| ensembl | rs781923855 |
| geneview | rs781923855 |
| scholar | rs781923855 |
| rs781923855 | |
| pharmgkb | rs781923855 |
| gwascentral | rs781923855 |
| openSNP | rs781923855 |
| 23andMe | rs781923855 |
| SNPshot | rs781923855 |
| SNPdbe | rs781923855 |
| MSV3d | rs781923855 |
| GWAS Ctlg | rs781923855 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | Rs781923855(A;A) |
| Alt | Rs781923855(A;A) |
| Reference | Rs781923855(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | FBXL6 SLC52A2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000008.10:g.145584069G>A |
| CLNSRC | |
| CLNACC | RCV000236297.1, |
