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rs397514658

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514658(A;A)
Make rs397514658(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position144360932
GeneSLC52A2
is asnp
is mentioned by
dbSNPrs397514658
ebirs397514658
HLIrs397514658
Exacrs397514658
Varsomers397514658
Maprs397514658
PheGenIrs397514658
hapmaprs397514658
1000 genomesrs397514658
hgdprs397514658
ensemblrs397514658
gopubmedrs397514658
geneviewrs397514658
scholarrs397514658
googlers397514658
pharmgkbrs397514658
gwascentralrs397514658
openSNPrs397514658
23andMers397514658
23andMe allrs397514658
SNP Nexus

SNPshotrs397514658
SNPdbers397514658
MSV3drs397514658
GWAS Ctlgrs397514658
Max Magnitude0
ClinVar
Risk rs397514658(A;A)
Alt rs397514658(A;A)
Reference rs397514658(G;G)
Significance Pathogenic
Disease Brown-Vialetto-Van Laere syndrome 2
Variation info
Gene SLC52A2
CLNDBN Brown-Vialetto-Van Laere syndrome 2
Reversed 0
HGVS NC_000008.10:g.145584592G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033239.5,