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: rs1800451
rs1800451
MBL2
0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1800451
rs1800451
MBL2
0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.050 1.000 5 2003 2018
dbSNP: rs1800451
rs1800451
MBL2
0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.030 1.000 3 2011 2019
dbSNP: rs1800451
rs1800451
MBL2
0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 1.000 1 2002 2002
dbSNP: rs1800451
rs1800451
MBL2
0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		0.010 1.000 1 2014 2014
dbSNP: rs1800451
rs1800451
MBL2
0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2003 2003
dbSNP: rs1800451
rs1800451
MBL2
0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2014 2014
dbSNP: rs1800451
rs1800451
MBL2
0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		0.010 1.000 1 2014 2014
dbSNP: rs1800451
rs1800451
MBL2
0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02
CUI: C0024530
Disease: Malaria
Malaria 		0.010 1.000 1 2012 2012