Disease: IRAK4 Deficiency ×
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: rs377584435
rs377584435 		1.000 0.080 12 43768145 missense variant C/T snv 2.4E-05 1.4E-05
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 0
dbSNP: rs121908002
rs121908002 		1.000 0.080 12 43778238 stop gained C/T snv 2.3E-04 3.4E-04
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 9 2003 2015
dbSNP: rs114951157
rs114951157 		1.000 0.080 12 43772968 stop gained C/T snv 1.6E-05 7.7E-05
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1443126481
rs1443126481 		1.000 0.080 12 43768199 stop gained G/C;T snv 4.0E-06; 4.0E-06
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs1555167566
rs1555167566 		1.000 0.080 12 43771279 frameshift variant G/- delins
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs1555169270
rs1555169270 		1.000 0.080 12 43777629 splice acceptor variant G/T snv
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs1565678077
rs1565678077 		1.000 0.080 12 43777734 frameshift variant T/- del
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs568782766
rs568782766 		1.000 0.080 12 43778254 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs758539498
rs758539498 		1.000 0.080 12 43777749 splice region variant G/A;T snv 2.0E-05
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0