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

rs72550870

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/142
Chromosome1
Position11046609
GeneMASP2
is asnp
is mentioned by
dbSNPrs72550870
dbSNP (old)rs72550870
ClinGenrs72550870
ebirs72550870
HLIrs72550870
Exacrs72550870
Varsomers72550870
Maprs72550870
PheGenIrs72550870
Biobankrs72550870
1000 genomesrs72550870
hgdprs72550870
ensemblrs72550870
gopubmedrs72550870
geneviewrs72550870
scholarrs72550870
googlers72550870
pharmgkbrs72550870
gwascentralrs72550870
openSNPrs72550870
23andMers72550870
23andMe allrs72550870
SNP Nexus

SNPshotrs72550870
SNPdbers72550870
MSV3drs72550870
GWAS Ctlgrs72550870
GMAF0.01745
Max Magnitude3

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.

OMIM605102
Desc
Variant0001
Relatedalso


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


GET Evidence
MASP2-D120G
aa_change Asp120Gly
aa_change_short D120G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0200781
summary



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