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: rs28665122
rs28665122
SELENOS
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs3733197
rs3733197
BANK1
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2013 2013
dbSNP: rs2903692
rs2903692
CLEC16A
6 0.807 0.360 16 11144926 intron variant G/A snv 0.33 0.010 1.000 1 2009 2009
dbSNP: rs3789604
rs3789604
RSBN1 ; AP4B1-AS1
9 0.776 0.360 1 113812320 synonymous variant T/A;C;G snv 8.5E-06; 1.3E-05; 0.17 0.010 1.000 1 2010 2010
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2009 2012
dbSNP: rs2618431
rs2618431
FAM167A
2 0.925 0.120 8 11466955 intron variant A/G snv 0.87 0.010 1.000 1 2018 2018
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs4840568
rs4840568
BLK
4 0.882 0.160 8 11493510 intron variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs12492609
rs12492609
TMEM39A
3 0.882 0.040 3 119435715 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs7629750
rs7629750
TMEM39A
3 0.882 0.040 3 119455829 intron variant A/G snv 0.45 0.010 1.000 1 2019 2019
dbSNP: rs2900180
rs2900180
C5-OT1
5 0.827 0.280 9 120944104 regulatory region variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2069550
rs2069550
TG
2 0.925 0.120 8 132888141 synonymous variant T/C snv 0.58 0.60 0.010 1.000 1 2019 2019
dbSNP: rs853326
rs853326
TG
3 0.882 0.120 8 132897729 missense variant A/G snv 0.58 0.60 0.010 1.000 1 2019 2019
dbSNP: rs2076740
rs2076740
TG
5 0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37 0.010 1.000 1 2019 2019
dbSNP: rs661561
rs661561
TNFAIP3
3 0.882 0.200 6 137876194 intron variant A/C snv 0.62 0.50 0.010 1.000 1 2014 2014
dbSNP: rs2071400
rs2071400
TPO
3 0.882 0.120 2 1412867 intron variant C/T snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs2048722
rs2048722
TPO
2 0.925 2 1492028 intron variant A/G snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2006 2006
dbSNP: rs7514229
rs7514229
TNFSF4
1 1.000 1 173185165 3 prime UTR variant G/T snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs745826707
rs745826707
RBM45
5 0.851 0.200 2 178112712 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs7574865
rs7574865
STAT4
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs10181656
rs10181656
STAT4
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.030 1.000 3 2009 2014