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: rs9808753
rs9808753
IFNGR2
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2011 2011
dbSNP: rs9275572
rs9275572 		15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs9275517
rs9275517
MTCO3P1
2 0.925 0.200 6 32706872 non coding transcript exon variant A/G snv 0.58 0.710 < 0.001 1 2012 2012
dbSNP: rs9275245
rs9275245 		2 0.925 0.160 6 32693166 intergenic variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs9274614
rs9274614
HLA-DQB1
1 1.000 0.120 6 32668069 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs9268853
rs9268853
HLA-DRB9
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2014 2014
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2006 2006
dbSNP: rs8094402
rs8094402
MBP
3 0.882 0.120 18 76995493 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs7755224
rs7755224 		1 1.000 0.120 6 32684540 regulatory region variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs764562217
rs764562217
TP53
3 0.882 0.120 17 7673308 stop lost T/G snv 2.3E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs735665
rs735665
GRAMD1B
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 < 0.001 1 2011 2011
dbSNP: rs6932542
rs6932542 		5 0.827 0.200 6 32412485 downstream gene variant A/G snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs6457327
rs6457327 		7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.750 1.000 5 2009 2014
dbSNP: rs6444305
rs6444305
LPP
2 0.925 0.120 3 188582114 intron variant G/A;C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs6054706
rs6054706 		1 1.000 0.120 20 149223 downstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs587781386
rs587781386
TP53
3 0.882 0.120 17 7674889 missense variant A/C;G snv 3.2E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs587776637
rs587776637
BCL10
1 1.000 0.120 1 85267692 inframe deletion TCT/- delins 0.700 0
dbSNP: rs587776636
rs587776636
BCL10
1 1.000 0.120 1 85267930 frameshift variant -/A delins 0.700 0
dbSNP: rs587776635
rs587776635
BCL10
1 1.000 0.120 1 85267919 frameshift variant T/- delins 0.700 0
dbSNP: rs587776634
rs587776634
BCL10
1 1.000 0.120 1 85267788 frameshift variant TGCCTACTTCTAGAACA/- del 0.700 0
dbSNP: rs587776633
rs587776633
BCL10
1 1.000 0.120 1 85270732 frameshift variant -/T delins 0.700 0
dbSNP: rs587776632
rs587776632
BCL10
2 0.925 0.120 1 85267901 frameshift variant A/-;AAA delins 0.700 0
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2011 2011