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rs797045191

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 in clinvar
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position765615
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs797045191
dbSNP (old)rs797045191
ClinGenrs797045191
ebirs797045191
HLIrs797045191
Exacrs797045191
Gnomadrs797045191
Varsomers797045191
Maprs797045191
PheGenIrs797045191
Biobankrs797045191
1000 genomesrs797045191
hgdprs797045191
ensemblrs797045191
gopubmedrs797045191
geneviewrs797045191
scholarrs797045191
googlers797045191
pharmgkbrs797045191
gwascentralrs797045191
openSNPrs797045191
23andMers797045191
23andMe allrs797045191
SNP Nexus

SNPshotrs797045191
SNPdbers797045191
MSV3drs797045191
GWAS Ctlgrs797045191
Max Magnitude8
ClinVar
Risk Rs797045191(A;A)
Alt Rs797045191(A;A)
Reference Rs797045191(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.746259C>T
CLNSRC
CLNACC RCV000191958.1,