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rs397518446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs397518446(-;G)
Make rs397518446(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position58200228
GeneEPX
is asnp
is mentioned by
dbSNPrs397518446
dbSNP (classic)rs397518446
ClinGenrs397518446
ebirs397518446
HLIrs397518446
Exacrs397518446
Gnomadrs397518446
Varsomers397518446
LitVarrs397518446
Maprs397518446
PheGenIrs397518446
Biobankrs397518446
1000 genomesrs397518446
hgdprs397518446
ensemblrs397518446
geneviewrs397518446
scholarrs397518446
googlers397518446
pharmgkbrs397518446
gwascentralrs397518446
openSNPrs397518446
23andMers397518446
SNPshotrs397518446
SNPdbers397518446
MSV3drs397518446
GWAS Ctlgrs397518446
Max Magnitude0
ClinVar
Risk rs397518446(G;G)
Alt rs397518446(G;G)
Reference Rs397518446(-;-)
Significance Other
Disease Eosinophil peroxidase deficiency
Variation info
Gene EPX
CLNDBN Eosinophil peroxidase deficiency
Reversed 0
HGVS NC_000017.10:g.56277589dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000018091.31,