CD247, CD247 molecule, 919

N. diseases: 140; N. variants: 25
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: rs193922739
rs193922739 		1.000 0.080 1 167439354 missense variant TG/CA mnv
CUI: C1857798
Disease: Immunodeficiency due to Defect in CD3-Zeta
Immunodeficiency due to Defect in CD3-Zeta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs193922740
rs193922740 		1.000 0.080 1 167439354 missense variant T/A;G snv 4.0E-06
CUI: C1857798
Disease: Immunodeficiency due to Defect in CD3-Zeta
Immunodeficiency due to Defect in CD3-Zeta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs193922741
rs193922741 		1.000 0.080 1 167439353 missense variant CTG/ATA mnv
CUI: C1857798
Disease: Immunodeficiency due to Defect in CD3-Zeta
Immunodeficiency due to Defect in CD3-Zeta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs55729925
rs55729925 		1.000 0.080 1 167435434 stop gained G/A;T snv 2.6E-04; 4.0E-06
CUI: C1857798
Disease: Immunodeficiency due to Defect in CD3-Zeta
Immunodeficiency due to Defect in CD3-Zeta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs672601318
rs672601318 		1.000 0.120 1 167518464 start lost A/G snv
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs74315290
rs74315290 		1.000 0.080 1 167439355 stop gained G/A snv 4.0E-06
CUI: C1857798
Disease: Immunodeficiency due to Defect in CD3-Zeta
Immunodeficiency due to Defect in CD3-Zeta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs1052231
rs1052231 		1.000 0.080 1 167430837 3 prime UTR variant T/A snv 0.82
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10918706
rs10918706 		0.925 0.200 1 167496884 intron variant C/T snv 0.24
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs10918706
rs10918706 		0.925 0.200 1 167496884 intron variant C/T snv 0.24
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12133337
rs12133337 		0.925 0.160 1 167483453 intron variant T/C snv 0.17
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs12133337
rs12133337 		0.925 0.160 1 167483453 intron variant T/C snv 0.17
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1214611
rs1214611 		0.925 0.200 1 167479867 intron variant A/G snv 0.54
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1214611
rs1214611 		0.925 0.200 1 167479867 intron variant A/G snv 0.54
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs2056626
rs2056626 		0.882 0.080 1 167451188 intron variant T/G snv 0.30
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2949655
rs2949655 		1.000 0.120 1 167482613 intron variant G/A snv 0.39
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs704853
rs704853 		0.925 0.120 1 167499627 intron variant G/T snv 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs858554
rs858554 		1.000 0.120 1 167485677 intron variant A/G snv 0.58
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2016 2016