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: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.050 1.000 5 2011 2017
dbSNP: rs1054037
rs1054037
MANBA
1 1.000 0.080 4 102631552 3 prime UTR variant C/A;T snv 0.800 1.000 3 2011 2015
dbSNP: rs12924729
rs12924729
CLEC16A
3 0.882 0.200 16 11093926 intron variant G/A snv 0.34 0.800 1.000 3 2011 2015
dbSNP: rs1800693
rs1800693
TNFRSF1A
9 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.800 1.000 3 2011 2015
dbSNP: rs485499
rs485499
LINC01100 ; IL12A-AS1
2 0.925 0.080 3 160028076 intron variant T/C snv 0.29 0.800 1.000 3 2011 2015
dbSNP: rs6897932
rs6897932
IL7R
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.800 1.000 3 2011 2017
dbSNP: rs911263
rs911263
RAD51B
4 0.851 0.200 14 68286876 intron variant C/T snv 0.57 0.800 1.000 3 2011 2015
dbSNP: rs12935413
rs12935413
CLEC16A
3 1.000 0.080 16 11116590 intron variant G/A snv 0.34 0.700 1.000 2 2011 2012
dbSNP: rs1372072
rs1372072
PLCL2
4 0.851 0.200 3 16913767 intron variant G/A snv 0.35 0.800 1.000 2 2011 2015
dbSNP: rs2297067
rs2297067
EXOC3L4
2 1.000 0.080 14 103100448 missense variant C/T snv 0.22 0.20 0.800 1.000 2 2011 2015
dbSNP: rs2866413
rs2866413
MANBA
1 1.000 0.080 4 102635920 missense variant G/A;C snv 0.54; 2.4E-05 0.700 1.000 2 2011 2012
dbSNP: rs3732421
rs3732421
TMEM39A
1 1.000 0.080 3 119431242 3 prime UTR variant A/G snv 0.15 0.800 1.000 2 2011 2017
dbSNP: rs3771317
rs3771317
NAB1
1 1.000 0.080 2 190679236 intron variant T/C;G snv 0.800 1.000 2 2011 2015
dbSNP: rs4149581
rs4149581
TNFRSF1A
1 1.000 0.080 12 6337819 intron variant T/A;C snv 0.700 1.000 2 2011 2012
dbSNP: rs4938573
rs4938573 		4 0.851 0.280 11 118871133 regulatory region variant C/T snv 0.79 0.700 1.000 2 2011 2012
dbSNP: rs4952108
rs4952108 		1 1.000 0.080 2 30206869 upstream gene variant C/A;T snv 0.800 1.000 2 2011 2015
dbSNP: rs6421571
rs6421571 		6 0.851 0.200 11 118873063 intergenic variant T/A;C snv 0.800 1.000 2 2011 2015
dbSNP: rs7665090
rs7665090
MANBA
6 0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55 0.800 1.000 2 2011 2012
dbSNP: rs860413
rs860413 		2 0.925 0.080 5 35942940 upstream gene variant A/C snv 0.23 0.800 1.000 2 2011 2015
dbSNP: rs1003643
rs1003643 		1 1.000 0.080 22 39280489 downstream gene variant T/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs1003644
rs1003644 		1 1.000 0.080 22 39280739 downstream gene variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs10174098
rs10174098
ITGAV
3 0.882 0.200 2 186628015 intron variant G/A snv 0.62 0.010 1.000 1 2011 2011
dbSNP: rs10892294
rs10892294 		1 1.000 0.080 11 118796648 downstream gene variant G/C snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs10931468
rs10931468
NAB1
2 0.925 0.080 2 190673836 intron variant C/A;G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs11117432
rs11117432 		4 0.851 0.200 16 85985665 upstream gene variant G/A snv 0.15 0.800 1.000 1 2011 2011