RS72550870 MASP2

Health Risk Chr 1:11046608 snv missense variant

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What This Variant Does

"rs72550870, also known as c.359A&gt

Associated Conditions

Immunodeficiency due to MASP-2 deficiency

MASP2-related disorder

Immunodeficiency due to MASP-2 deficiency

MASP2-related disorder

GWAS Studies (5)

Trait	Risk Allele	OR / Beta	P-value	Study
Kidney-associated antigen 1 levels	T	OR: 1.01	2E-142	PubMed
FCN2 protein levels	C	OR: 0.2	2E-51	PubMed
FCN1 protein levels	C	OR: 0.14	3E-20	PubMed
ANGPTL7 protein levels	C	OR: 0.13	2E-15	PubMed
MASP1 protein levels	C	OR: 0.12	2E-14	PubMed

Population Frequencies

gnomAD ALL

2.7%

1kG AFR

0.1%

1kG ALL

98.8%

1kG AMR

2.3%

1kG EAS

100%

1kG EUR

3.9%

1kG SAS

99.6%

Other Variants in MASP2