rs797045190
From SNPedia
Orientation | minus |
Stabilized | minus |
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 | 765726 |
Gene | SLC52A3 |
is a | snp |
is | mentioned by |
dbSNP | rs797045190 |
dbSNP (classic) | rs797045190 |
ClinGen | rs797045190 |
ebi | rs797045190 |
HLI | rs797045190 |
Exac | rs797045190 |
Gnomad | rs797045190 |
Varsome | rs797045190 |
LitVar | rs797045190 |
Map | rs797045190 |
PheGenI | rs797045190 |
Biobank | rs797045190 |
1000 genomes | rs797045190 |
hgdp | rs797045190 |
ensembl | rs797045190 |
geneview | rs797045190 |
scholar | rs797045190 |
rs797045190 | |
pharmgkb | rs797045190 |
gwascentral | rs797045190 |
openSNP | rs797045190 |
23andMe | rs797045190 |
SNPshot | rs797045190 |
SNPdbe | rs797045190 |
MSV3d | rs797045190 |
GWAS Ctlg | rs797045190 |
Max Magnitude | 8 |
ClinVar | |
---|---|
Risk | Rs797045190(C;C) |
Alt | Rs797045190(C;C) |
Reference | Rs797045190(T;T) |
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.746370A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000191956.2, |