rs56378716

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;T)	3	Carrier of a myeloperoxidase deficiency mutation
(T;T)	0	common in clinvar

Make rs56378716(C;C)

Reference

GRCh38 38.1/142

Chromosome

17

Position

58279141

Gene

MPO

is a	snp
is	mentioned by
dbSNP	rs56378716
dbSNP (classic)	rs56378716
ClinGen	rs56378716
ebi	rs56378716
HLI	rs56378716
Exac	rs56378716
Gnomad	rs56378716
Varsome	rs56378716
LitVar	rs56378716
Map	rs56378716
PheGenI	rs56378716
Biobank	rs56378716
1000 genomes	rs56378716
hgdp	rs56378716
ensembl	rs56378716
geneview	rs56378716
scholar	rs56378716
google	rs56378716
pharmgkb	rs56378716
gwascentral	rs56378716
openSNP	rs56378716
23andMe	rs56378716
SNPshot	rs56378716
SNPdbe	rs56378716
MSV3d	rs56378716
GWAS Ctlg	rs56378716

GMAF

0.007346

Max Magnitude

3

aka c.752T>C (p.Met251Thr or M251T)

OMIM	606989
Desc
Variant	0003
Related	also

ClinVar
Risk	rs56378716(C;C)
Alt	rs56378716(C;C)
Reference	Rs56378716(T;T)
Significance	Pathogenic
Disease	Myeloperoxidase deficiency
Variation	info
Gene	MPO
CLNDBN	Myeloperoxidase deficiency
Reversed	1
HGVS	NC_000017.10:g.56356502A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003812.4,