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: rs2284553
rs2284553
IFNGR2
9 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.010 1.000 1 2011 2011
dbSNP: rs750321842
rs750321842
C1QL1
1 1.000 0.080 17 44967583 missense variant C/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs9808753
rs9808753
IFNGR2
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2011 2011