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rs797045194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 8 Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(A;C) 3 Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(C;C) 0 common in clinvar
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position763912
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs797045194
dbSNP (old)rs797045194
ClinGenrs797045194
ebirs797045194
HLIrs797045194
Exacrs797045194
Varsomers797045194
Maprs797045194
PheGenIrs797045194
Biobankrs797045194
1000 genomesrs797045194
hgdprs797045194
ensemblrs797045194
gopubmedrs797045194
geneviewrs797045194
scholarrs797045194
googlers797045194
pharmgkbrs797045194
gwascentralrs797045194
openSNPrs797045194
23andMers797045194
23andMe allrs797045194
SNP Nexus

SNPshotrs797045194
SNPdbers797045194
MSV3drs797045194
GWAS Ctlgrs797045194
Max Magnitude8
ClinVar
Risk Rs797045194(A;A)
Alt Rs797045194(A;A)
Reference Rs797045194(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.744556G>T
CLNSRC
CLNACC RCV000191964.1,