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rs797045190

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045190(C;C)
Make rs797045190(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position765726
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs797045190
ebirs797045190
HLIrs797045190
Exacrs797045190
Varsomers797045190
Maprs797045190
PheGenIrs797045190
hapmaprs797045190
1000 genomesrs797045190
hgdprs797045190
ensemblrs797045190
gopubmedrs797045190
geneviewrs797045190
scholarrs797045190
googlers797045190
pharmgkbrs797045190
gwascentralrs797045190
openSNPrs797045190
23andMers797045190
23andMe allrs797045190
SNP Nexus

SNPshotrs797045190
SNPdbers797045190
MSV3drs797045190
GWAS Ctlgrs797045190
Max Magnitude0
ClinVar
Risk rs797045190(C;C)
Alt rs797045190(C;C)
Reference rs797045190(T;T)
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.746370A>G
CLNSRC
CLNACC RCV000191956.1,