rs78950939

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs78950939(C;C)

Make rs78950939(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

58279553

Gene

MPO

is a	snp
is	mentioned by
dbSNP	rs78950939
dbSNP (classic)	rs78950939
ClinGen	rs78950939
ebi	rs78950939
HLI	rs78950939
Exac	rs78950939
Gnomad	rs78950939
Varsome	rs78950939
LitVar	rs78950939
Map	rs78950939
PheGenI	rs78950939
Biobank	rs78950939
1000 genomes	rs78950939
hgdp	rs78950939
ensembl	rs78950939
geneview	rs78950939
scholar	rs78950939
google	rs78950939
pharmgkb	rs78950939
gwascentral	rs78950939
openSNP	rs78950939
23andMe	rs78950939
SNPshot	rs78950939
SNPdbe	rs78950939
MSV3d	rs78950939
GWAS Ctlg	rs78950939

GMAF

0.0004591

Max Magnitude

0

OMIM	606989
Desc
Variant	0002
Related	also

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 UniProtKB (protein)
CLNACC	RCV000003811.4,