CD247, CD247 molecule, 919

N. diseases: 140; N. variants: 25
Disease: Immunodeficiency due to Defect in CD3-Zeta ×
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: 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: 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