Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1565678077
rs1565678077
IRAK4
1.000 0.080 12 43777734 frameshift variant T/- del
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.700 0