rs267606683
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended |
| (A;G) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
| (T;T) | 8 | Brown-Vialetto-Van Laere Syndrome; riboflavin treatment recommended |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 765564 |
| Gene | SLC52A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267606683 |
| dbSNP (classic) | rs267606683 |
| ClinGen | rs267606683 |
| ebi | rs267606683 |
| HLI | rs267606683 |
| Exac | rs267606683 |
| Gnomad | rs267606683 |
| Varsome | rs267606683 |
| LitVar | rs267606683 |
| Map | rs267606683 |
| PheGenI | rs267606683 |
| Biobank | rs267606683 |
| 1000 genomes | rs267606683 |
| hgdp | rs267606683 |
| ensembl | rs267606683 |
| geneview | rs267606683 |
| scholar | rs267606683 |
| rs267606683 | |
| pharmgkb | rs267606683 |
| gwascentral | rs267606683 |
| openSNP | rs267606683 |
| 23andMe | rs267606683 |
| SNPshot | rs267606683 |
| SNPdbe | rs267606683 |
| MSV3d | rs267606683 |
| GWAS Ctlg | rs267606683 |
| Max Magnitude | 8 |
23andMe name for the c.G>T mutation: i5008313
| ClinVar | |
|---|---|
| Risk | Rs267606683(A;A) Rs267606683(T;T) |
| Alt | Rs267606683(A;A) Rs267606683(T;T) |
| Reference | Rs267606683(G;G) |
| Significance | Pathogenic |
| Disease | Brown-Vialetto-Van Laere syndrome 1 |
| Variation | info |
| Gene | SLC52A3 |
| CLNDBN | Brown-Vialetto-Van Laere syndrome 1 |
| Reversed | 1 |
| HGVS | NC_000020.10:g.746208C>A; NC_000020.10:g.746208C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000163.5, RCV000191960.1, |
