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rs199588390

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199588390(C;C)
Make rs199588390(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position765713
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs199588390
ebirs199588390
HLIrs199588390
Exacrs199588390
Varsomers199588390
Maprs199588390
PheGenIrs199588390
hapmaprs199588390
1000 genomesrs199588390
hgdprs199588390
ensemblrs199588390
gopubmedrs199588390
geneviewrs199588390
scholarrs199588390
googlers199588390
pharmgkbrs199588390
gwascentralrs199588390
openSNPrs199588390
23andMers199588390
23andMe allrs199588390
SNP Nexus

SNPshotrs199588390
SNPdbers199588390
MSV3drs199588390
GWAS Ctlgrs199588390
Max Magnitude0
ClinVar
Risk rs199588390(C;C)
Alt rs199588390(C;C)
Reference rs199588390(T;T)
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.746357T>C
CLNSRC
CLNACC RCV000191957.1,