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rs1057524605

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/normal
Chromosome20
Position761213
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs1057524605
dbSNP (old)rs1057524605
ClinGenrs1057524605
ebirs1057524605
HLIrs1057524605
Exacrs1057524605
Gnomadrs1057524605
Varsomers1057524605
LitVarrs1057524605
Maprs1057524605
PheGenIrs1057524605
Biobankrs1057524605
1000 genomesrs1057524605
hgdprs1057524605
ensemblrs1057524605
gopubmedrs1057524605
geneviewrs1057524605
scholarrs1057524605
googlers1057524605
pharmgkbrs1057524605
gwascentralrs1057524605
openSNPrs1057524605
23andMers1057524605
23andMe allrs1057524605
SNPshotrs1057524605
SNPdbers1057524605
MSV3drs1057524605
GWAS Ctlgrs1057524605
Max Magnitude8
ClinVar
Risk Rs1057524605(A;A)
Alt Rs1057524605(A;A)
Reference Rs1057524605(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene SLC52A3
CLNDBN not provided
Reversed 1
HGVS NC_000020.10:g.741857C>T
CLNSRC
CLNACC RCV000431504.1,