Have questions? Visit https://www.reddit.com/r/SNPedia

rs397514657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation
(T;T) 8 Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended
ReferenceGRCh38 38.1/141
Chromosome8
Position144359647
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs397514657
ClinGenrs397514657
ebirs397514657
HLIrs397514657
Exacrs397514657
Varsomers397514657
Maprs397514657
PheGenIrs397514657
Biobankrs397514657
1000 genomesrs397514657
hgdprs397514657
ensemblrs397514657
gopubmedrs397514657
geneviewrs397514657
scholarrs397514657
googlers397514657
pharmgkbrs397514657
gwascentralrs397514657
openSNPrs397514657
23andMers397514657
23andMe allrs397514657
SNP Nexus

SNPshotrs397514657
SNPdbers397514657
MSV3drs397514657
GWAS Ctlgrs397514657
Max Magnitude8
ClinVar
Risk rs397514657(G;G) Rs397514657(T;T)
Alt rs397514657(G;G) Rs397514657(T;T)
Reference Rs397514657(C;C)
Significance Pathogenic
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.145583307C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033238.6, RCV000236548.1,