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rs119469014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119469014(C;T)
Make rs119469014(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position58273540
GeneMPO
is asnp
is mentioned by
dbSNPrs119469014
dbSNP (classic)rs119469014
ClinGenrs119469014
ebirs119469014
HLIrs119469014
Exacrs119469014
Gnomadrs119469014
Varsomers119469014
LitVarrs119469014
Maprs119469014
PheGenIrs119469014
Biobankrs119469014
1000 genomesrs119469014
hgdprs119469014
ensemblrs119469014
geneviewrs119469014
scholarrs119469014
googlers119469014
pharmgkbrs119469014
gwascentralrs119469014
openSNPrs119469014
23andMers119469014
SNPshotrs119469014
SNPdbers119469014
MSV3drs119469014
GWAS Ctlgrs119469014
Max Magnitude0
OMIM606989
Desc
Variant0010
Relatedalso
ClinVar
Risk rs119469014(T;T)
Alt rs119469014(T;T)
Reference Rs119469014(C;C)
Significance Pathogenic
Disease Myeloperoxidase deficiency
Variation info
Gene MPO
CLNDBN Myeloperoxidase deficiency
Reversed 1
HGVS NC_000017.10:g.56350901G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003820.4,