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rs267606684

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T) 8 Brown-Vialetto-Van Laere Syndrome; riboflavin treatment recommended
ReferenceGRCh38 38.1/141
Chromosome20
Position765381
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs267606684
dbSNP (classic)rs267606684
ClinGenrs267606684
ebirs267606684
HLIrs267606684
Exacrs267606684
Gnomadrs267606684
Varsomers267606684
LitVarrs267606684
Maprs267606684
PheGenIrs267606684
Biobankrs267606684
1000 genomesrs267606684
hgdprs267606684
ensemblrs267606684
geneviewrs267606684
scholarrs267606684
googlers267606684
pharmgkbrs267606684
gwascentralrs267606684
openSNPrs267606684
23andMers267606684
SNPshotrs267606684
SNPdbers267606684
MSV3drs267606684
GWAS Ctlgrs267606684
Max Magnitude8

23andMe name: i5008314

ClinVar
Risk Rs267606684(T;T)
Alt Rs267606684(T;T)
Reference Rs267606684(C;C)
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.746025G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000164.5,