C1QA, complement C1q A chain, 712

N. diseases: 88; N. variants: 5
Disease: Lupus Erythematosus, Discoid ×
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: rs1206255976
rs1206255976 		0.851 0.160 1 22637618 start lost T/G snv 7.0E-06
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		Skin and Connective Tissue Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs292001
rs292001 		0.807 0.320 1 22638465 intron variant G/A snv 0.54
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015