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: rs1050501
rs1050501
FCGR2B
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 1.000 1 2012 2012
dbSNP: rs121918338
rs121918338
CARD9
7 0.807 0.160 9 136370362 stop gained G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1308699981
rs1308699981
FCGR3A
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs560051377
rs560051377
FCGR3B
5 0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs921151054
rs921151054
CARD9
3 0.925 0.080 9 136371375 missense variant A/G snv 2.2E-05 2.1E-05 0.010 1.000 1 2019 2019