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rs1064795599

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common/normal
(G;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
Chromosome8
Position144359627
GeneFBXL6, SLC52A2
is asnp
is mentioned by
dbSNPrs1064795599
dbSNP (old)rs1064795599
ClinGenrs1064795599
ebirs1064795599
HLIrs1064795599
Exacrs1064795599
Gnomadrs1064795599
Varsomers1064795599
Maprs1064795599
PheGenIrs1064795599
Biobankrs1064795599
1000 genomesrs1064795599
hgdprs1064795599
ensemblrs1064795599
gopubmedrs1064795599
geneviewrs1064795599
scholarrs1064795599
googlers1064795599
pharmgkbrs1064795599
gwascentralrs1064795599
openSNPrs1064795599
23andMers1064795599
23andMe allrs1064795599
SNPshotrs1064795599
SNPdbers1064795599
MSV3drs1064795599
GWAS Ctlgrs1064795599
Max Magnitude8
ClinVar
Risk Rs1064795599(T;T)
Alt Rs1064795599(T;T)
Reference Rs1064795599(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene FBXL6 SLC52A2
CLNDBN not provided
Reversed 0
HGVS NC_000008.10:g.145583287G>T
CLNSRC
CLNACC RCV000483042.1,