rs267606686
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 7 | Brown-Vialetto-Van Laere Syndrome; riboflavin treatment recommended |
(A;G) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 765669 |
Gene | SLC52A3 |
is a | snp |
is | mentioned by |
dbSNP | rs267606686 |
dbSNP (classic) | rs267606686 |
ClinGen | rs267606686 |
ebi | rs267606686 |
HLI | rs267606686 |
Exac | rs267606686 |
Gnomad | rs267606686 |
Varsome | rs267606686 |
LitVar | rs267606686 |
Map | rs267606686 |
PheGenI | rs267606686 |
Biobank | rs267606686 |
1000 genomes | rs267606686 |
hgdp | rs267606686 |
ensembl | rs267606686 |
geneview | rs267606686 |
scholar | rs267606686 |
rs267606686 | |
pharmgkb | rs267606686 |
gwascentral | rs267606686 |
openSNP | rs267606686 |
23andMe | rs267606686 |
SNPshot | rs267606686 |
SNPdbe | rs267606686 |
MSV3d | rs267606686 |
GWAS Ctlg | rs267606686 |
Max Magnitude | 7 |
23andMe name: i5008317
ClinVar | |
---|---|
Risk | Rs267606686(A;A) |
Alt | Rs267606686(A;A) |
Reference | Rs267606686(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.746313C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000166.5, |