Have questions? Visit https://www.reddit.com/r/SNPedia

rs797045196

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045196(G;T)
Make rs797045196(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position763582
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs797045196
ebirs797045196
HLIrs797045196
Exacrs797045196
Varsomers797045196
Maprs797045196
PheGenIrs797045196
hapmaprs797045196
1000 genomesrs797045196
hgdprs797045196
ensemblrs797045196
gopubmedrs797045196
geneviewrs797045196
scholarrs797045196
googlers797045196
pharmgkbrs797045196
gwascentralrs797045196
openSNPrs797045196
23andMers797045196
23andMe allrs797045196
SNP Nexus

SNPshotrs797045196
SNPdbers797045196
MSV3drs797045196
GWAS Ctlgrs797045196
Max Magnitude0
ClinVar
Risk rs797045196(T;T)
Alt rs797045196(T;T)
Reference rs797045196(G;G)
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.744226C>A
CLNSRC
CLNACC RCV000191968.1,