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: rs1088967
rs1088967 		4 0.851 0.080 X 127010099 intergenic variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs11575982
rs11575982
CD40LG
2 0.925 0.080 X 136659171 missense variant G/A;C snv 1.8E-03; 9.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs12014762
rs12014762
MORC4
3 0.882 0.080 X 106940440 intron variant C/T snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs12863738
rs12863738 		14 0.724 0.240 X 136949968 intron variant C/T snv 0.16 0.700 1.000 1 2015 2015
dbSNP: rs226534
rs226534 		1 1.000 0.040 X 127768516 intergenic variant A/G snv 0.34 0.700 1.000 1 2008 2008
dbSNP: rs2294021
rs2294021
CCDC22
8 0.776 0.280 X 49249149 intron variant T/A;C snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs2807264
rs2807264 		14 0.724 0.240 X 136583619 downstream gene variant C/A snv 0.700 1.000 1 2015 2015
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs5929166
rs5929166
XACT
1 1.000 0.040 X 113634280 intron variant G/A snv 1.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs6622126
rs6622126
MORC4
4 0.851 0.080 X 106956972 missense variant G/A snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs2413583
rs2413583 		3 0.925 0.040 22 39263768 intron variant C/T snv 0.19 0.800 1.000 3 2010 2017
dbSNP: rs4821544
rs4821544
NCF4 ; NCF4-AS1
6 0.925 0.040 22 36862461 intron variant T/A;C snv 0.720 1.000 3 2008 2017
dbSNP: rs2298428
rs2298428
YDJC
9 0.807 0.240 22 21628603 missense variant C/T snv 0.27 0.18 0.020 1.000 2 2010 2012
dbSNP: rs5763767
rs5763767
HORMAD2
3 0.925 0.040 22 30097893 intron variant G/A;T snv 0.700 1.000 2 2015 2017
dbSNP: rs140135
rs140135
UQCR10 ; ZMAT5
5 0.827 0.120 22 29767846 non coding transcript exon variant C/G snv 0.79 0.700 1.000 1 2016 2016
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 2015 2015
dbSNP: rs1569414
rs1569414
FAM118A
6 0.807 0.160 22 45331684 intron variant T/G snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.010 1.000 1 2017 2017
dbSNP: rs181359
rs181359
UBE2L3
3 0.882 0.080 22 21574352 intron variant G/A snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs2143178
rs2143178 		6 0.827 0.120 22 39264824 intron variant T/C snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs2256609
rs2256609
UBE2L3
2 0.925 0.080 22 21570728 intron variant A/G snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs2266959
rs2266959
UBE2L3
9 0.776 0.200 22 21568615 intron variant G/T snv 0.18 0.700 1.000 1 2017 2017
dbSNP: rs2266961
rs2266961
UBE2L3
7 0.807 0.160 22 21574308 intron variant C/G snv 0.18 0.700 1.000 1 2016 2016
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: 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