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: rs860413
rs860413 		2 0.925 0.080 5 35942940 upstream gene variant A/C snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs12531711
rs12531711
TNPO3
5 0.827 0.200 7 128977412 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs3745516
rs3745516
SPIB
2 0.925 0.080 19 50423485 intron variant A/G snv 0.62 0.700 1.000 2 2010 2011
dbSNP: rs3790567
rs3790567
IL12RB2
4 0.851 0.240 1 67356694 intron variant A/G snv 0.61 0.700 1.000 2 2009 2010
dbSNP: rs3135363
rs3135363 		8 0.776 0.360 6 32421871 intergenic variant A/G snv 0.24 0.700 1.000 1 2009 2009
dbSNP: rs7665090
rs7665090
MANBA
6 0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs9357152
rs9357152 		5 0.827 0.240 6 32697183 regulatory region variant A/G snv 0.24 0.700 1.000 1 2009 2009
dbSNP: rs10931468
rs10931468
NAB1
2 0.925 0.080 2 190673836 intron variant C/A;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs4679904
rs4679904 		2 0.925 0.080 3 160623108 intergenic variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs9303277
rs9303277
IKZF3
9 0.790 0.240 17 39820216 intron variant C/T snv 0.52 0.700 1.000 2 2010 2012
dbSNP: rs12134279
rs12134279 		4 0.925 0.080 1 197812068 regulatory region variant C/T snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs4979462
rs4979462
TNFSF15
7 0.790 0.240 9 114804733 intron variant C/T snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs911263
rs911263
RAD51B
4 0.851 0.200 14 68286876 intron variant C/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs2293370
rs2293370
TIMMDC1
3 0.882 0.160 3 119501087 intron variant G/A snv 0.18 0.700 1.000 2 2011 2012
dbSNP: rs11117432
rs11117432 		4 0.851 0.200 16 85985665 upstream gene variant G/A snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs12924729
rs12924729
CLEC16A
3 0.882 0.200 16 11093926 intron variant G/A snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs1372072
rs1372072
PLCL2
4 0.851 0.200 3 16913767 intron variant G/A snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs4938534
rs4938534
POU2AF1 ; BTG4
2 0.925 0.080 11 111404408 intron variant G/A snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs538147
rs538147
RPS6KA4
2 0.925 0.080 11 64362250 intron variant G/A snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs6890853
rs6890853
LOC105374724
2 0.925 0.080 5 35852209 upstream gene variant G/A snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs6974491
rs6974491
ELMO1
6 0.807 0.120 7 37334906 intron variant G/A snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs8017161
rs8017161
EXOC3L4
2 0.925 0.080 14 103096858 intron variant G/A snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs113993959
rs113993959
CFTR
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs2395148
rs2395148
TSBP1 ; TSBP1-AS1
3 0.882 0.200 6 32353777 intron variant G/T snv 4.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs968451
rs968451 		2 0.925 0.080 22 39274846 intron variant G/T snv 0.18 0.700 1.000 1 2011 2011