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

rs797045192

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045192(A;A)
Make rs797045192(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position765602
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs797045192
ebirs797045192
HLIrs797045192
Exacrs797045192
Varsomers797045192
Maprs797045192
PheGenIrs797045192
hapmaprs797045192
1000 genomesrs797045192
hgdprs797045192
ensemblrs797045192
gopubmedrs797045192
geneviewrs797045192
scholarrs797045192
googlers797045192
pharmgkbrs797045192
gwascentralrs797045192
openSNPrs797045192
23andMers797045192
23andMe allrs797045192
SNP Nexus

SNPshotrs797045192
SNPdbers797045192
MSV3drs797045192
GWAS Ctlgrs797045192
Max Magnitude0
ClinVar
Risk rs797045192(A;A)
Alt rs797045192(A;A)
Reference rs797045192(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.746246A>T
CLNSRC
CLNACC RCV000191959.1,