MBL2, mannose binding lectin 2, 4153

N. diseases: 563; N. variants: 21
Disease: Lupus Erythematosus, Systemic ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800450
rs1800450 		0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.040 1.000 4 2010 2017
dbSNP: rs5030737
rs5030737 		0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2010 2014
dbSNP: rs148078249
rs148078249 		1.000 0.080 10 52771481 missense variant C/T snv 6.4E-05 4.9E-05
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1800451
rs1800451 		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 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2014 2014