Disease: MYD88 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: rs137853064
rs137853064 		1.000 0.080 3 38140510 missense variant C/A;G;T snv 8.0E-06
CUI: C2677092
Disease: MYD88 Deficiency
MYD88 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 4 2008 2014
dbSNP: rs137853065
rs137853065 		1.000 0.080 3 38138978 missense variant T/C snv
CUI: C2677092
Disease: MYD88 Deficiency
MYD88 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.800 1.000 4 2008 2014
dbSNP: rs746651350
rs746651350 		1.000 0.080 3 38138671 frameshift variant GCTGAGGCTCCAGGACCGC/- delins 3.6E-04 3.0E-04
CUI: C2677092
Disease: MYD88 Deficiency
MYD88 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs878852993
rs878852993 		1.000 0.080 3 38138853 inframe deletion GAG/- delins
CUI: C2677092
Disease: MYD88 Deficiency
MYD88 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0