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: rs2848716
rs2848716 		2 0.925 0.200 6 31420190 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs3129860
rs3129860 		2 0.925 0.240 6 32433302 intergenic variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs34246750
rs34246750 		1 1.000 0.120 14 52402039 regulatory region variant G/C snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs35393613
rs35393613 		1 1.000 0.120 8 11480957 intron variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs4872534
rs4872534 		1 1.000 0.120 8 22710890 intron variant A/T snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs6014819
rs6014819 		1 1.000 0.120 20 56760851 intergenic variant G/A snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs6025146
rs6025146 		1 1.000 0.120 20 56760981 intergenic variant A/G snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs6069865
rs6069865 		1 1.000 0.120 20 56757888 intergenic variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs62489069
rs62489069 		1 1.000 0.120 8 11480874 intron variant A/G snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs7812879
rs7812879 		6 0.807 0.320 8 11482672 upstream gene variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs8008348
rs8008348 		1 1.000 0.120 14 52407427 intergenic variant A/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs899162
rs899162 		3 0.882 0.160 5 135459219 downstream gene variant G/A snv 1.0E-01 0.710 1.000 1 2019 2019
dbSNP: rs9309308
rs9309308 		2 0.925 0.160 2 24771701 downstream gene variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs9485729
rs9485729 		1 1.000 0.120 6 102688156 intergenic variant C/T snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs7986087
rs7986087
ABCC4
1 1.000 0.120 13 95263491 intron variant C/T snv 9.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs868853
rs868853
ABCC4 ; LOC102724149
1 1.000 0.120 13 95302822 upstream gene variant C/T snv 0.85 0.010 1.000 1 2018 2018
dbSNP: rs5050
rs5050
AGT
7 0.827 0.200 1 230714140 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2293256
rs2293256
ATP5MF ; PTCD1 ; ATP5MF-PTCD1
1 1.000 0.120 7 99460078 splice region variant G/A snv 5.8E-02 9.2E-02 0.700 1.000 1 2013 2013
dbSNP: rs750332
rs750332
BAG6
1 1.000 0.120 6 31639273 intron variant C/T snv 0.84 0.81 0.010 1.000 1 2011 2011
dbSNP: rs6993775
rs6993775
BLK
1 1.000 0.120 8 11512480 intron variant G/T snv 0.77 0.720 1.000 3 2012 2019
dbSNP: rs10100215
rs10100215
BLK
1 1.000 0.120 8 11504763 intron variant G/T snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs11250141
rs11250141
BLK
1 1.000 0.120 8 11514632 intron variant G/A snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs11990277
rs11990277
BLK
1 1.000 0.120 8 11514576 intron variant T/C snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs1382568
rs1382568
BLK
2 0.925 0.160 8 11493711 intron variant A/C;G snv 0.700 1.000 1 2012 2012