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: rs12072993
rs12072993
MASP2
1 11034305 intron variant A/G snv 8.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs56392418
rs56392418
MASP2
1.000 0.080 1 11046591 missense variant G/A snv 9.1E-03 3.6E-02
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency 		0.700 0
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.020 1.000 2 2008 2011
dbSNP: rs6695096
rs6695096
MASP2
1.000 0.040 1 11034982 intron variant C/A;T snv
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.020 1.000 2 2014 2015
dbSNP: rs12085877
rs12085877
MASP2 ; TARDBP
1.000 0.040 1 11027630 missense variant C/T snv 7.1E-03 2.9E-02
CUI: C0024530
Disease: Malaria
Malaria 		0.010 1.000 1 2012 2012
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.010 1.000 1 2013 2013
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 1.000 1 2013 2013
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C0242966
Disease: Systemic Inflammatory Response Syndrome
Systemic Inflammatory Response Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs12711521
rs12711521
MASP2 ; TARDBP
0.807 0.240 1 11030859 missense variant C/A snv 0.74 0.63
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.010 1.000 1 2013 2013
dbSNP: rs147270785
rs147270785
MASP2
1.000 0.080 1 11046616 missense variant G/A snv 6.5E-04 6.4E-04
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 1.000 1 2018 2018
dbSNP: rs147270785
rs147270785
MASP2
1.000 0.080 1 11046616 missense variant G/A snv 6.5E-04 6.4E-04
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2018 2018
dbSNP: rs2273346
rs2273346
MASP2 ; TARDBP
1.000 0.040 1 11030840 missense variant A/G snv 5.0E-02 5.8E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2015 2015
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: 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: 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: 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: 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: C0019196
Disease: Hepatitis C
Hepatitis C 		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