rs72550870, MASP2

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MASP2 Deficiency
CUI: C3151085
Disease: MASP2 Deficiency
2 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.820 1.000 9 2003 2015
CATARACT, ANTERIOR POLAR
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
27 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1.000 1 2008 2008
Chronic rheumatic heart disease
CUI: C0175708
Disease: Chronic rheumatic heart disease
1 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1.000 1 2008 2008
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1.000 1 2008 2008
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1.000 1 2008 2008
Mannose-Binding Protein Deficiency
CUI: C3280586
Disease: Mannose-Binding Protein Deficiency
3 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1.000 1 2008 2008
Rheumatic Fever
CUI: C0035436
Disease: Rheumatic Fever
5 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1 2008 2008
Rheumatic Heart Disease
CUI: C0035439
Disease: Rheumatic Heart Disease
33 0.776 0.360 1 11046609 missense variant T/C snv 2.1E-02 2.2E-02 0.010 1.000 1 2008 2008