C2, complement C2, 717

N. diseases: 71; N. variants: 39
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: rs558702
rs558702
0.807 0.320 6 31902549 intron variant G/A snv 7.7E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs659445
rs659445
0.882 0.160 6 31896527 intron variant G/A;C snv 0.77 0.76
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2014 2014