Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514710
rs397514710
IRF8
1 1.000 16 85909137 missense variant A/G snv 0.810 1.000 3 2011 2014
dbSNP: rs774835569
rs774835569
IRF8 ; MIR6774
1 1.000 16 85918486 missense variant C/T snv 5.2E-05 7.7E-05 0.700 0
dbSNP: rs771694484
rs771694484
IFNG ; IFNG-AS1
1 1.000 12 68157954 missense variant T/C snv 4.0E-05 7.0E-06 0.010 1.000 1 2013 2013