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rs797045195

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045195(C;T)
Make rs797045195(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position763616
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs797045195
ebirs797045195
HLIrs797045195
Exacrs797045195
Varsomers797045195
Maprs797045195
PheGenIrs797045195
hapmaprs797045195
1000 genomesrs797045195
hgdprs797045195
ensemblrs797045195
gopubmedrs797045195
geneviewrs797045195
scholarrs797045195
googlers797045195
pharmgkbrs797045195
gwascentralrs797045195
openSNPrs797045195
23andMers797045195
23andMe allrs797045195
SNP Nexus

SNPshotrs797045195
SNPdbers797045195
MSV3drs797045195
GWAS Ctlgrs797045195
Max Magnitude0
ClinVar
Risk rs797045195(T;T)
Alt rs797045195(T;T)
Reference rs797045195(C;C)
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.744260G>A
CLNSRC
CLNACC RCV000191967.1,