Have questions? Visit https://www.reddit.com/r/SNPedia

rs78950939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs78950939(C;C)
Make rs78950939(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position58279553
GeneMPO
is asnp
is mentioned by
dbSNPrs78950939
ebirs78950939
HLIrs78950939
Exacrs78950939
Varsomers78950939
Maprs78950939
PheGenIrs78950939
hapmaprs78950939
1000 genomesrs78950939
hgdprs78950939
ensemblrs78950939
gopubmedrs78950939
geneviewrs78950939
scholarrs78950939
googlers78950939
pharmgkbrs78950939
gwascentralrs78950939
openSNPrs78950939
23andMers78950939
23andMe allrs78950939
SNP Nexus

SNPshotrs78950939
SNPdbers78950939
MSV3drs78950939
GWAS Ctlgrs78950939
GMAF0.0004591
Max Magnitude0
OMIM606989
Desc
Variant0002
Relatedalso
ClinVar
Risk rs78950939(C;C)
Alt rs78950939(C;C)
Reference rs78950939(T;T)
Significance Pathogenic
Disease Myeloperoxidase deficiency
Variation info
Gene MPO
CLNDBN Myeloperoxidase deficiency
Reversed 0
HGVS NC_000017.10:g.56356914T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003811.4,


GET Evidence
MPO-Y173C
aa_change Tyr173Cys
aa_change_short Y173C
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.000557724
summary This variant is reported to cause MPO-deficiency, which is generally asymptomatic. MPO-deficiency may cause increased susceptibility to immunodeficiency or antibacterial immune response, but most people with MPO deficiency have no symptoms. This gene is likely to be redundant with other immune mechanisms, and individuals who did have symptoms possibly had additional pathogenic variants in other genes.