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: rs56885347
rs56885347
TSHR
1 1.000 0.120 14 80992418 3 prime UTR variant -/AAA delins 0.700 1.000 1 2012 2012
dbSNP: rs5912838
rs5912838
LOC107985690
2 0.925 0.280 X 79241621 intergenic variant A/C snv 0.800 1.000 2 2013 2019
dbSNP: rs1044043
rs1044043
TAP2
1 1.000 0.120 6 32826204 3 prime UTR variant A/C snv 0.82 0.700 1.000 1 2011 2011
dbSNP: rs368397331
rs368397331
FGFR1OP
1 1.000 0.120 6 167004623 intron variant A/C snv 0.700 1.000 1 2012 2012
dbSNP: rs3753793
rs3753793
CCN1 ; DDAH1
4 0.851 0.240 1 85580205 upstream gene variant A/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs630379
rs630379
CYP21A2 ; NELFE
3 0.882 0.200 6 31954477 intron variant A/C snv 0.77 0.79 0.700 1.000 1 2011 2011
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: rs111033304
rs111033304
SLC26A4
1 1.000 0.120 7 107683334 missense variant A/C;G snv 1.0E-03 0.010 1.000 1 2010 2010
dbSNP: rs11652878
rs11652878
ITGAE
2 0.925 0.160 17 3751686 missense variant A/C;G snv 4.0E-06; 0.12 0.010 1.000 1 2010 2010
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2010 2010
dbSNP: rs2723176
rs2723176
IL37
4 0.851 0.200 2 112914932 intron variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs4969170
rs4969170
LOC101928674
11 0.752 0.440 17 78364457 intron variant A/C;G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.020 1.000 2 2005 2018
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs17855750
rs17855750
IL27
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.900 0.857 14 2005 2019
dbSNP: rs179247
rs179247
TSHR
5 0.882 0.160 14 80966202 intron variant A/G snv 0.40 0.770 1.000 8 2009 2017
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2018
dbSNP: rs2284038
rs2284038
RAC2
1 1.000 0.120 22 37239015 intron variant A/G snv 0.41 0.710 1.000 2 2013 2017
dbSNP: rs2284720
rs2284720
TSHR
1 1.000 0.120 14 80976823 intron variant A/G snv 0.18 0.710 1.000 2 2011 2013
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 < 0.001 2 2007 2013
dbSNP: rs7528684
rs7528684
FCRL3
13 0.752 0.560 1 157701026 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2013
dbSNP: rs10738760
rs10738760 		7 0.807 0.320 9 2691186 regulatory region variant A/G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs10818488
rs10818488
C5-OT1
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.010 1.000 1 2016 2016