rs199588390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8 | Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended |
(C;T) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
(T;T) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 765713 |
Gene | SLC52A3 |
is a | snp |
is | mentioned by |
dbSNP | rs199588390 |
dbSNP (classic) | rs199588390 |
ClinGen | rs199588390 |
ebi | rs199588390 |
HLI | rs199588390 |
Exac | rs199588390 |
Gnomad | rs199588390 |
Varsome | rs199588390 |
LitVar | rs199588390 |
Map | rs199588390 |
PheGenI | rs199588390 |
Biobank | rs199588390 |
1000 genomes | rs199588390 |
hgdp | rs199588390 |
ensembl | rs199588390 |
geneview | rs199588390 |
scholar | rs199588390 |
rs199588390 | |
pharmgkb | rs199588390 |
gwascentral | rs199588390 |
openSNP | rs199588390 |
23andMe | rs199588390 |
SNPshot | rs199588390 |
SNPdbe | rs199588390 |
MSV3d | rs199588390 |
GWAS Ctlg | rs199588390 |
Max Magnitude | 8 |
ClinVar | |
---|---|
Risk | Rs199588390(C;C) |
Alt | Rs199588390(C;C) |
Reference | Rs199588390(T;T) |
Significance | Pathogenic |
Disease | Brown-Vialetto-Van Laere syndrome 1 |
Variation | info |
Gene | SLC52A3 |
CLNDBN | Brown-Vialetto-Van Laere syndrome 1 |
Reversed | 0 |
HGVS | NC_000020.10:g.746357T>C |
CLNSRC | |
CLNACC | RCV000191957.1, |