Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs72550870
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.820 1.000 9 2003 2015
dbSNP: rs72550870
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs72550870
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02
CUI: C0035436
Disease: Rheumatic Fever
Rheumatic Fever 		0.010 < 0.001 1 2008 2008
dbSNP: rs72550870
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
CATARACT, ANTERIOR POLAR 		0.010 1.000 1 2008 2008
dbSNP: rs72550870
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
Mannose-Binding Protein Deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs72550870
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 1.000 1 2008 2008
dbSNP: rs72550870
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02
CUI: C0175708
Disease: Chronic rheumatic heart disease
Chronic rheumatic heart disease 		0.010 1.000 1 2008 2008
dbSNP: rs72550870
rs72550870
MASP2
0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2008 2008