rs778363575
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8 | Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended |
(C;G) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome mutation |
(G;G) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 20 |
Position | 763932 |
Gene | SLC52A3 |
is a | snp |
is | mentioned by |
dbSNP | rs778363575 |
dbSNP (classic) | rs778363575 |
ClinGen | rs778363575 |
ebi | rs778363575 |
HLI | rs778363575 |
Exac | rs778363575 |
Gnomad | rs778363575 |
Varsome | rs778363575 |
LitVar | rs778363575 |
Map | rs778363575 |
PheGenI | rs778363575 |
Biobank | rs778363575 |
1000 genomes | rs778363575 |
hgdp | rs778363575 |
ensembl | rs778363575 |
geneview | rs778363575 |
scholar | rs778363575 |
rs778363575 | |
pharmgkb | rs778363575 |
gwascentral | rs778363575 |
openSNP | rs778363575 |
23andMe | rs778363575 |
SNPshot | rs778363575 |
SNPdbe | rs778363575 |
MSV3d | rs778363575 |
GWAS Ctlg | rs778363575 |
Max Magnitude | 8 |
ClinVar | |
---|---|
Risk | rs778363575(A;A) Rs778363575(C;C) |
Alt | rs778363575(A;A) Rs778363575(C;C) |
Reference | Rs778363575(G;G) |
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.744576G>C |
CLNSRC | |
CLNACC | RCV000191963.1, |