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rs797045199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 8 Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended
(C;G) 3 Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position144359385
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs797045199
ClinGenrs797045199
ebirs797045199
HLIrs797045199
Exacrs797045199
Varsomers797045199
Maprs797045199
PheGenIrs797045199
hapmaprs797045199
1000 genomesrs797045199
hgdprs797045199
ensemblrs797045199
gopubmedrs797045199
geneviewrs797045199
scholarrs797045199
googlers797045199
pharmgkbrs797045199
gwascentralrs797045199
openSNPrs797045199
23andMers797045199
23andMe allrs797045199
SNP Nexus

SNPshotrs797045199
SNPdbers797045199
MSV3drs797045199
GWAS Ctlgrs797045199
Max Magnitude8
ClinVar
Risk Rs797045199(C;C)
Alt Rs797045199(C;C)
Reference Rs797045199(G;G)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 2
Variation info
Gene FBXL6 SLC52A2
CLNDBN Brown-Vialetto-Van Laere syndrome 2
Reversed 0
HGVS NC_000008.10:g.145583045G>C
CLNSRC
CLNACC RCV000191982.1,