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: rs111033623
rs111033623
SH2D1A ; STAG2
3 0.925 0.080 X 124365786 stop gained C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs2427870
rs2427870 		1 X 136581905 upstream gene variant C/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs34688635
rs34688635
NOX1
1 X 100850206 missense variant C/T snv 1.9E-02 2.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs747581281
rs747581281
CFP
1 X 47624319 missense variant G/C snv 3.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs713875
rs713875
HORMAD2 ; LOC105372988
2 1.000 0.040 22 30196498 intron variant C/G snv 0.47 0.030 1.000 3 2014 2015
dbSNP: rs2266959
rs2266959
UBE2L3
9 0.776 0.200 22 21568615 intron variant G/T snv 0.18 0.800 1.000 2 2012 2017
dbSNP: rs2413583
rs2413583 		3 0.925 0.040 22 39263768 intron variant C/T snv 0.19 0.800 1.000 2 2012 2017
dbSNP: rs4821544
rs4821544
NCF4 ; NCF4-AS1
6 0.925 0.040 22 36862461 intron variant T/A;C snv 0.020 1.000 2 2008 2015
dbSNP: rs1003342
rs1003342
HORMAD2
1 22 30174033 intron variant A/G snv 0.45 0.700 1.000 1 2015 2015
dbSNP: rs12627970
rs12627970 		2 1.000 0.080 22 39325740 TF binding site variant A/G snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs130555
rs130555
SYN3
2 1.000 0.040 22 32787803 intron variant C/T snv 0.77 0.700 1.000 1 2014 2014
dbSNP: rs142430606
rs142430606
IL17REL
3 0.925 0.040 22 49998059 missense variant G/A;T snv 1.1E-02; 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs200958270
rs200958270
IL17REL
2 1.000 0.040 22 49999850 missense variant T/C snv 1.1E-02 6.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs2071746
rs2071746
HMOX1
18 0.708 0.320 22 35380679 intron variant A/T snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs2143178
rs2143178 		6 0.827 0.120 22 39264824 intron variant T/C snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs2266961
rs2266961
UBE2L3
7 0.807 0.160 22 21574308 intron variant C/G snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs2412970
rs2412970
HORMAD2
1 22 30090837 intron variant A/G snv 0.55 0.800 1.000 1 2012 2012
dbSNP: rs2412971
rs2412971
HORMAD2
5 0.882 0.320 22 30098382 intron variant G/A snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs2412973
rs2412973
HORMAD2
2 1.000 0.080 22 30133642 intron variant C/A snv 0.54 0.810 1.000 1 2009 2009
dbSNP: rs2413739
rs2413739
PACSIN2
6 0.827 0.120 22 43001030 intron variant C/T snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs35873774
rs35873774
XBP1
3 0.925 0.040 22 28795944 intron variant A/G snv 4.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs4821558
rs4821558
CSF2RB
1 22 36912743 upstream gene variant T/C snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs5763767
rs5763767
HORMAD2
3 0.925 0.040 22 30097893 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2016 2016
dbSNP: rs2836878
rs2836878 		7 0.851 0.200 21 39093608 intergenic variant G/A snv 0.23 0.800 1.000 3 2008 2017