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rs758570021

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;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
Make rs758570021(A;A)
Make rs758570021(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position761140
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs758570021
dbSNP (old)rs758570021
ClinGenrs758570021
ebirs758570021
HLIrs758570021
Exacrs758570021
Gnomadrs758570021
Varsomers758570021
Maprs758570021
PheGenIrs758570021
Biobankrs758570021
1000 genomesrs758570021
hgdprs758570021
ensemblrs758570021
gopubmedrs758570021
geneviewrs758570021
scholarrs758570021
googlers758570021
pharmgkbrs758570021
gwascentralrs758570021
openSNPrs758570021
23andMers758570021
23andMe allrs758570021
SNP Nexus

SNPshotrs758570021
SNPdbers758570021
MSV3drs758570021
GWAS Ctlgrs758570021
Max Magnitude8
ClinVar
Risk rs758570021(A;A) Rs758570021(T;T)
Alt rs758570021(A;A) Rs758570021(T;T)
Reference Rs758570021(G;G)
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.741784G>T
CLNSRC
CLNACC RCV000191972.1,