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rs797045193

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045193(C;C)
Make rs797045193(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position765551
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs797045193
ebirs797045193
HLIrs797045193
Exacrs797045193
Varsomers797045193
Maprs797045193
PheGenIrs797045193
hapmaprs797045193
1000 genomesrs797045193
hgdprs797045193
ensemblrs797045193
gopubmedrs797045193
geneviewrs797045193
scholarrs797045193
googlers797045193
pharmgkbrs797045193
gwascentralrs797045193
openSNPrs797045193
23andMers797045193
23andMe allrs797045193
SNP Nexus

SNPshotrs797045193
SNPdbers797045193
MSV3drs797045193
GWAS Ctlgrs797045193
Max Magnitude0
ClinVar
Risk rs797045193(C;C)
Alt rs797045193(C;C)
Reference rs797045193(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.746195A>G
CLNSRC
CLNACC RCV000191961.1,