CR2, complement C3d receptor 2, 1380

N. diseases: 123; N. variants: 9
Disease: Lupus Vulgaris ×
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: rs3813946
rs3813946 		0.827 0.280 1 207454348 5 prime UTR variant T/C snv 0.16
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		Infections; Skin and Connective Tissue Diseases 0.020 1.000 2 2007 2012
dbSNP: rs1048971
rs1048971 		0.851 0.160 1 207472977 synonymous variant G/A;T snv 0.34; 8.0E-06
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs17615
rs17615 		0.827 0.200 1 207473117 missense variant G/A snv 0.26 0.31
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1876453
rs1876453 		0.851 0.160 1 207454573 intron variant G/A snv 8.4E-02
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016