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: rs1553238837
rs1553238837 		1.000 0.080 1 167518414 frameshift variant -/C delins
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: rs864537
rs864537 		0.925 0.200 1 167442147 intron variant A/G snv 0.29
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.810 1.000 2 2011 2013
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: rs1617333
rs1617333 		0.925 0.080 1 167467033 intron variant A/G snv 0.27
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1617333
rs1617333 		0.925 0.080 1 167467033 intron variant A/G snv 0.27
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1723018
rs1723018 		1.000 0.080 1 167464183 intron variant A/G snv 0.33
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 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
dbSNP: rs864537
rs864537 		0.925 0.200 1 167442147 intron variant A/G snv 0.29
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs864537
rs864537 		0.925 0.200 1 167442147 intron variant A/G snv 0.29
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2010 2010
dbSNP: rs864537
rs864537 		0.925 0.200 1 167442147 intron variant A/G snv 0.29
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.800 1.000 1 2011 2011
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: rs2949661
rs2949661 		1 167455687 intron variant C/A;G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7523907
rs7523907 		1.000 0.080 1 167458010 non coding transcript exon variant C/A;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
dbSNP: rs7523907
rs7523907 		1.000 0.080 1 167458010 non coding transcript exon variant C/A;T snv
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7523907
rs7523907 		1.000 0.080 1 167458010 non coding transcript exon variant C/A;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2949669
rs2949669 		1 167448647 intron variant C/G;T snv
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
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: rs2988277
rs2988277 		1 167462115 intron variant C/T snv 0.27
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
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: rs2056625
rs2056625 		0.925 0.080 1 167451062 intron variant G/A snv 0.27
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2056625
rs2056625 		0.925 0.080 1 167451062 intron variant G/A snv 0.27
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.700 1.000 1 2019 2019
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: 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