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: rs121434221
rs121434221
1 1.000 0.120 11 108329199 missense variant A/G snv 0.800 0
dbSNP: rs121434222
rs121434222
ATM
2 0.925 0.280 11 108287687 stop gained C/T snv 0.700 0
dbSNP: rs796051857
rs796051857
1 1.000 0.120 11 108329181 inframe insertion -/GAA delins 0.700 0
dbSNP: rs1057519825
rs1057519825
BTK
7 0.882 0.120 X 101356176 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519826
rs1057519826
BTK
7 0.882 0.120 X 101356177 missense variant A/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2010 2010
dbSNP: rs1800890
rs1800890
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs2509049
rs2509049
6 0.827 0.160 11 119095811 upstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs604714
rs604714
3 0.925 0.120 11 119099986 intron variant C/A snv 0.31 0.010 1.000 1 2013 2013