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rs56378716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs56378716(C;C)
Make rs56378716(C;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position58279141
GeneMPO
is asnp
is mentioned by
dbSNPrs56378716
ebirs56378716
HLIrs56378716
Exacrs56378716
Varsomers56378716
Maprs56378716
PheGenIrs56378716
hapmaprs56378716
1000 genomesrs56378716
hgdprs56378716
ensemblrs56378716
gopubmedrs56378716
geneviewrs56378716
scholarrs56378716
googlers56378716
pharmgkbrs56378716
gwascentralrs56378716
openSNPrs56378716
23andMers56378716
23andMe allrs56378716
SNP Nexus

SNPshotrs56378716
SNPdbers56378716
MSV3drs56378716
GWAS Ctlgrs56378716
GMAF0.007346
Max Magnitude0
OMIM606989
Desc
Variant0003
Relatedalso


ClinVar
Risk rs56378716(C;C)
Alt rs56378716(C;C)
Reference rs56378716(T;T)
Significance Pathogenic
Disease Myeloperoxidase deficiency
Variation info
Gene MPO
CLNDBN Myeloperoxidase deficiency
Reversed 1
HGVS NC_000017.10:g.56356502A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003812.4,