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: rs1352714
rs1352714
DCHS2
2 0.925 0.280 4 154322452 missense variant T/C snv 0.95 0.90 0.700 1.000 1 2019 2019
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: rs1991517
rs1991517
TSHR ; LOC101928462
13 0.752 0.240 14 81144239 missense variant G/C snv 0.90 0.91 0.040 0.750 4 1999 2003
dbSNP: rs7530511
rs7530511
IL23R ; C1orf141
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.010 1.000 1 2008 2008
dbSNP: rs1061501
rs1061501
IRF7
4 0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85 0.010 1.000 1 2019 2019
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: rs933208
rs933208
DDX39B ; ATP6V1G2-DDX39B
1 1.000 0.120 6 31538871 synonymous variant G/T snv 0.76 0.76 0.700 1.000 1 2011 2011
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.030 0.667 3 2017 2019
dbSNP: rs130078
rs130078
CCHCR1
1 1.000 0.120 6 31150788 synonymous variant C/G snv 0.74 0.75 0.700 1.000 1 2011 2011
dbSNP: rs3811047
rs3811047
IL37
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.010 1.000 1 2015 2015
dbSNP: rs3811046
rs3811046
IL37
5 0.851 0.160 2 112913801 missense variant G/A;T snv 4.0E-06; 0.71 0.010 1.000 1 2015 2015
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2009 2009
dbSNP: rs3811035
rs3811035
FCRL5
2 1.000 0.120 1 157515771 splice region variant G/A snv 0.63 0.51 0.010 1.000 1 2010 2010
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: 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: rs2273017
rs2273017
TSBP1 ; TSBP1-AS1
1 1.000 0.120 6 32369853 intron variant G/A;C snv 0.59 0.800 1.000 1 2011 2011
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 2008 2008
dbSNP: rs180223
rs180223
TG
2 0.925 0.120 8 132888007 missense variant T/A;C;G snv 8.0E-06; 4.0E-06; 0.58 0.010 1.000 1 2008 2008
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 2010 2010
dbSNP: rs2292779
rs2292779
AGO2
4 0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs2424913
rs2424913
DNMT3B
18 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 0.010 1.000 1 2016 2016
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 2005 2005
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2014 2014
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