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rs797045198

From SNPedia

Orientationminus
Stabilizedminus
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
Position761181
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs797045198
dbSNP (old)rs797045198
ClinGenrs797045198
ebirs797045198
HLIrs797045198
Exacrs797045198
Gnomadrs797045198
Varsomers797045198
Maprs797045198
PheGenIrs797045198
Biobankrs797045198
1000 genomesrs797045198
hgdprs797045198
ensemblrs797045198
gopubmedrs797045198
geneviewrs797045198
scholarrs797045198
googlers797045198
pharmgkbrs797045198
gwascentralrs797045198
openSNPrs797045198
23andMers797045198
23andMe allrs797045198
SNP Nexus

SNPshotrs797045198
SNPdbers797045198
MSV3drs797045198
GWAS Ctlgrs797045198
Max Magnitude8
ClinVar
Risk Rs797045198(A;A)
Alt Rs797045198(A;A)
Reference Rs797045198(G;G)
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.741825C>T
CLNSRC
CLNACC RCV000191980.1,