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rs527853872

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs527853872(C;C)
Make rs527853872(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position765372
GeneSLC52A3
is asnp
is mentioned by
dbSNPrs527853872
ebirs527853872
HLIrs527853872
Exacrs527853872
Varsomers527853872
Maprs527853872
PheGenIrs527853872
hapmaprs527853872
1000 genomesrs527853872
hgdprs527853872
ensemblrs527853872
gopubmedrs527853872
geneviewrs527853872
scholarrs527853872
googlers527853872
pharmgkbrs527853872
gwascentralrs527853872
openSNPrs527853872
23andMers527853872
23andMe allrs527853872
SNP Nexus

SNPshotrs527853872
SNPdbers527853872
MSV3drs527853872
GWAS Ctlgrs527853872
Max Magnitude0
ClinVar
Risk rs527853872(C;C)
Alt rs527853872(C;C)
Reference rs527853872(T;T)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 1
Variation info
Gene SLC52A3
CLNDBN Brown-Vialetto-Van Laere syndrome 1
Reversed 0
HGVS NC_000020.10:g.746016T>C
CLNSRC
CLNACC RCV000191976.1,