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rs370499474

From SNPedia

Orientationplus
Stabilizedplus
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
Position763775
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs370499474
dbSNP (old)rs370499474
ClinGenrs370499474
ebirs370499474
HLIrs370499474
Exacrs370499474
Gnomadrs370499474
Varsomers370499474
Maprs370499474
PheGenIrs370499474
Biobankrs370499474
1000 genomesrs370499474
hgdprs370499474
ensemblrs370499474
gopubmedrs370499474
geneviewrs370499474
scholarrs370499474
googlers370499474
pharmgkbrs370499474
gwascentralrs370499474
openSNPrs370499474
23andMers370499474
23andMe allrs370499474
SNP Nexus

SNPshotrs370499474
SNPdbers370499474
MSV3drs370499474
GWAS Ctlgrs370499474
Max Magnitude8
ClinVar
Risk Rs370499474(A;A)
Alt Rs370499474(A;A)
Reference Rs370499474(G;G)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 1 not provided
Variation info
Gene SLC52A3
CLNDBN Brown-Vialetto-Van Laere syndrome 1 not provided
Reversed 0
HGVS NC_000020.10:g.744419G>A
CLNSRC
CLNACC RCV000191965.1, RCV000483942.1,