MBL2, mannose binding lectin 2, 4153

N. diseases: 563; N. variants: 21
Disease: Adult type dermatomyositis ×
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: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800451
rs1800451 		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 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5030737
rs5030737 		0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014