rs754320812
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8 | Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended |
(C;T) | 3 | Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation |
(T;T) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 144360427 |
Gene | FBXL6, SLC52A2 |
is a | snp |
is | mentioned by |
dbSNP | rs754320812 |
dbSNP (classic) | rs754320812 |
ClinGen | rs754320812 |
ebi | rs754320812 |
HLI | rs754320812 |
Exac | rs754320812 |
Gnomad | rs754320812 |
Varsome | rs754320812 |
LitVar | rs754320812 |
Map | rs754320812 |
PheGenI | rs754320812 |
Biobank | rs754320812 |
1000 genomes | rs754320812 |
hgdp | rs754320812 |
ensembl | rs754320812 |
geneview | rs754320812 |
scholar | rs754320812 |
rs754320812 | |
pharmgkb | rs754320812 |
gwascentral | rs754320812 |
openSNP | rs754320812 |
23andMe | rs754320812 |
SNPshot | rs754320812 |
SNPdbe | rs754320812 |
MSV3d | rs754320812 |
GWAS Ctlg | rs754320812 |
Max Magnitude | 8 |
ClinVar | |
---|---|
Risk | Rs754320812(C;C) |
Alt | Rs754320812(C;C) |
Reference | Rs754320812(T;T) |
Significance | Other |
Disease | Brown-Vialetto-Van Laere syndrome 2 not provided |
Variation | info |
Gene | FBXL6 SLC52A2 |
CLNDBN | Brown-Vialetto-Van Laere syndrome 2 not provided |
Reversed | 0 |
HGVS | NC_000008.10:g.145584087T>C |
CLNSRC | |
CLNACC | RCV000191986.1, RCV000224069.2, |