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: rs121908002
rs121908002
IRAK4
1.000 0.080 12 43778238 stop gained C/T snv 2.3E-04 3.4E-04
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		0.700 1.000 9 2003 2015