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rs797045197

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045197(G;G)
Make rs797045197(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position763900
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs797045197
ebirs797045197
HLIrs797045197
Exacrs797045197
Varsomers797045197
Maprs797045197
PheGenIrs797045197
hapmaprs797045197
1000 genomesrs797045197
hgdprs797045197
ensemblrs797045197
gopubmedrs797045197
geneviewrs797045197
scholarrs797045197
googlers797045197
pharmgkbrs797045197
gwascentralrs797045197
openSNPrs797045197
23andMers797045197
23andMe allrs797045197
SNP Nexus

SNPshotrs797045197
SNPdbers797045197
MSV3drs797045197
GWAS Ctlgrs797045197
Max Magnitude0
ClinVar
Risk rs797045197(G;G)
Alt rs797045197(G;G)
Reference rs797045197(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.744544A>C
CLNSRC
CLNACC RCV000191978.1,