CD19, CD19 molecule, 930

N. diseases: 365; N. variants: 5
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: rs2904880
rs2904880 		1.000 0.040 16 28933075 missense variant C/G snv 0.72 0.76
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs2904880
rs2904880 		1.000 0.040 16 28933075 missense variant C/G snv 0.72 0.76
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2013 2013
dbSNP: rs2904880
rs2904880 		1.000 0.040 16 28933075 missense variant C/G snv 0.72 0.76
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2013 2013
dbSNP: rs2904880
rs2904880 		1.000 0.040 16 28933075 missense variant C/G snv 0.72 0.76
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1567506566
rs1567506566 		1.000 0.080 16 28936152 splice acceptor variant G/T snv
CUI: C3150738
Disease: Antibody Deficiency due to Defect in CD19
Antibody Deficiency due to Defect in CD19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs886037920
rs886037920 		1.000 0.080 16 28932413 missense variant G/C snv
CUI: C3150738
Disease: Antibody Deficiency due to Defect in CD19
Antibody Deficiency due to Defect in CD19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs886037921
rs886037921 		1.000 0.080 16 28937800 frameshift variant C/- delins
CUI: C3150738
Disease: Antibody Deficiency due to Defect in CD19
Antibody Deficiency due to Defect in CD19 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs2904880
rs2904880 		1.000 0.040 16 28933075 missense variant C/G snv 0.72 0.76
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs35979293
rs35979293 		0.925 0.080 16 28933379 synonymous variant G/A;T snv 3.2E-05; 0.30
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs35979293
rs35979293 		0.925 0.080 16 28933379 synonymous variant G/A;T snv 3.2E-05; 0.30
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012