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rs1060499531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8 Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(A;G) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(G;G) 0 common/normal
Chromosome20
Position761143
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs1060499531
dbSNP (old)rs1060499531
ClinGenrs1060499531
ebirs1060499531
HLIrs1060499531
Exacrs1060499531
Gnomadrs1060499531
Varsomers1060499531
Maprs1060499531
PheGenIrs1060499531
Biobankrs1060499531
1000 genomesrs1060499531
hgdprs1060499531
ensemblrs1060499531
gopubmedrs1060499531
geneviewrs1060499531
scholarrs1060499531
googlers1060499531
pharmgkbrs1060499531
gwascentralrs1060499531
openSNPrs1060499531
23andMers1060499531
23andMe allrs1060499531
SNPshotrs1060499531
SNPdbers1060499531
MSV3drs1060499531
GWAS Ctlgrs1060499531
Max Magnitude8
ClinVar
Risk Rs1060499531(A;A)
Alt Rs1060499531(A;A)
Reference Rs1060499531(G;G)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 1
Variation info
Gene SLC52A3
CLNDBN Brown-Vialetto-Van Laere syndrome 1
Reversed 1
HGVS NC_000020.10:g.741787C>T
CLNSRC
CLNACC RCV000191981.1,