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rs754320812

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144360427
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs754320812
dbSNP (old)rs754320812
ClinGenrs754320812
ebirs754320812
HLIrs754320812
Exacrs754320812
Gnomadrs754320812
Varsomers754320812
Maprs754320812
PheGenIrs754320812
Biobankrs754320812
1000 genomesrs754320812
hgdprs754320812
ensemblrs754320812
gopubmedrs754320812
geneviewrs754320812
scholarrs754320812
googlers754320812
pharmgkbrs754320812
gwascentralrs754320812
openSNPrs754320812
23andMers754320812
23andMe allrs754320812
SNP Nexus

SNPshotrs754320812
SNPdbers754320812
MSV3drs754320812
GWAS Ctlgrs754320812
Max Magnitude8
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,