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rs76947760

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T) 8 Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position763523
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs76947760
ClinGenrs76947760
ebirs76947760
HLIrs76947760
Exacrs76947760
Varsomers76947760
Maprs76947760
PheGenIrs76947760
hapmaprs76947760
1000 genomesrs76947760
hgdprs76947760
ensemblrs76947760
gopubmedrs76947760
geneviewrs76947760
scholarrs76947760
googlers76947760
pharmgkbrs76947760
gwascentralrs76947760
openSNPrs76947760
23andMers76947760
23andMe allrs76947760
SNP Nexus

SNPshotrs76947760
SNPdbers76947760
MSV3drs76947760
GWAS Ctlgrs76947760
Max Magnitude8
ClinVar
Risk rs76947760(G;G) Rs76947760(T;T)
Alt rs76947760(G;G) Rs76947760(T;T)
Reference Rs76947760(A;A)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 1
Variation info
Gene SLC52A3
CLNDBN Brown-Vialetto-Van Laere syndrome 1
Reversed 0
HGVS NC_000020.10:g.744167A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000191969.1,