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rs794728004

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 8 Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(-;TC) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(TC;TC) 0 common in clinvar
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position761110
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs794728004
dbSNP (old)rs794728004
ClinGenrs794728004
ebirs794728004
HLIrs794728004
Exacrs794728004
Gnomadrs794728004
Varsomers794728004
Maprs794728004
PheGenIrs794728004
Biobankrs794728004
1000 genomesrs794728004
hgdprs794728004
ensemblrs794728004
gopubmedrs794728004
geneviewrs794728004
scholarrs794728004
googlers794728004
pharmgkbrs794728004
gwascentralrs794728004
openSNPrs794728004
23andMers794728004
23andMe allrs794728004
SNP Nexus

SNPshotrs794728004
SNPdbers794728004
MSV3drs794728004
GWAS Ctlgrs794728004
Max Magnitude8
ClinVar
Risk Rs794728004(-;-)
Alt Rs794728004(-;-)
Reference Rs794728004(TC;TC)
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 1
HGVS NC_000020.10:g.741754_741755delGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000000162.3, RCV000494398.1,