rs72550870

minus

Geno	Mag	Summary
(A;A)	0	common in complete genomics
(A;G)	3	Carrier for a variant possibly associated with MASP2 deficiency
(G;G)	3	Possible MASP2 deficiency

Reference

GRCh38 38.1/142

Chromosome

1

Position

11046609

Gene

MASP2

is a	snp
is	mentioned by
dbSNP	rs72550870
dbSNP (classic)	rs72550870
ClinGen	rs72550870
ebi	rs72550870
HLI	rs72550870
Exac	rs72550870
Gnomad	rs72550870
Varsome	rs72550870
LitVar	rs72550870
Map	rs72550870
PheGenI	rs72550870
Biobank	rs72550870
1000 genomes	rs72550870
hgdp	rs72550870
ensembl	rs72550870
geneview	rs72550870
scholar	rs72550870
google	rs72550870
pharmgkb	rs72550870
gwascentral	rs72550870
openSNP	rs72550870
23andMe	rs72550870
SNPshot	rs72550870
SNPdbe	rs72550870
MSV3d	rs72550870
GWAS Ctlg	rs72550870

GMAF

0.01745

Max Magnitude

3

rs72550870, also known as c.359A>G, p.Asp120Gly and D120G, represents a somewhat common variant in the MASP2 gene on chromosome 1.

At least when inherited as a homozygous recessive, this variant may be associated with mildly elevated risk for infection and inflammatory diseases, however, some homozygous individuals never experience clinical symptoms. The penetrance (and pathogenicity) remains unclear for the time being.

OMIM	605102
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs72550870(G;G)
Alt	Rs72550870(G;G)
Reference	Rs72550870(A;A)
Significance	Other
Disease	MASP2 deficiency not specified
Variation	info
Gene	MASP2
CLNDBN	MASP2 deficiency not specified
Reversed	1
HGVS	NC_000001.10:g.11106666T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005520.4, RCV000239142.1,

[PMID 20042521 ] Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.

[PMID 23142462] A novel assay to quantitate MASP-2/ficolin-3 complexes in serum