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rs119469013

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119469013(A;A)
Make rs119469013(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position58273534
GeneMPO
is asnp
is mentioned by
dbSNPrs119469013
dbSNP (classic)rs119469013
ClinGenrs119469013
ebirs119469013
HLIrs119469013
Exacrs119469013
Gnomadrs119469013
Varsomers119469013
LitVarrs119469013
Maprs119469013
PheGenIrs119469013
Biobankrs119469013
1000 genomesrs119469013
hgdprs119469013
ensemblrs119469013
geneviewrs119469013
scholarrs119469013
googlers119469013
pharmgkbrs119469013
gwascentralrs119469013
openSNPrs119469013
23andMers119469013
SNPshotrs119469013
SNPdbers119469013
MSV3drs119469013
GWAS Ctlgrs119469013
Max Magnitude0
OMIM606989
Desc
Variant0009
Relatedalso
ClinVar
Risk rs119469013(A;A)
Alt rs119469013(A;A)
Reference Rs119469013(G;G)
Significance Pathogenic
Disease Myeloperoxidase deficiency
Variation info
Gene MPO
CLNDBN Myeloperoxidase deficiency
Reversed 1
HGVS NC_000017.10:g.56350895C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003819.4,