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rs119468010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119468010(C;T)
Make rs119468010(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position58272835
GeneMPO
is asnp
is mentioned by
dbSNPrs119468010
dbSNP (classic)rs119468010
ClinGenrs119468010
ebirs119468010
HLIrs119468010
Exacrs119468010
Gnomadrs119468010
Varsomers119468010
LitVarrs119468010
Maprs119468010
PheGenIrs119468010
Biobankrs119468010
1000 genomesrs119468010
hgdprs119468010
ensemblrs119468010
geneviewrs119468010
scholarrs119468010
googlers119468010
pharmgkbrs119468010
gwascentralrs119468010
openSNPrs119468010
23andMers119468010
SNPshotrs119468010
SNPdbers119468010
MSV3drs119468010
GWAS Ctlgrs119468010
Max Magnitude0
OMIM606989
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119468010(T;T)
Alt rs119468010(T;T)
Reference Rs119468010(C;C)
Significance Pathogenic
Disease Myeloperoxidase deficiency not provided
Variation info
Gene MPO
CLNDBN Myeloperoxidase deficiency not provided
Reversed 1
HGVS NC_000017.10:g.56350196G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003810.4, RCV000366635.1,