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: rs1150757
rs1150757
TNXB
2 0.925 0.160 6 32061428 synonymous variant G/A;C snv 5.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs28383224
rs28383224 		2 0.925 0.160 6 32615876 regulatory region variant A/G snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs117026326
rs117026326
GTF2I ; LOC101926943
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.020 1.000 2 2019 2019
dbSNP: rs1800693
rs1800693
TNFRSF1A
9 0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38 0.020 1.000 2 2013 2014
dbSNP: rs2300747
rs2300747
CD58 ; MIR548AC
3 0.882 0.200 1 116561593 intron variant A/G snv 0.19 0.020 1.000 2 2014 2017
dbSNP: rs1016140
rs1016140
CD58
1 1.000 0.120 1 116533925 non coding transcript exon variant G/T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs10168266
rs10168266
STAT4
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs10181656
rs10181656
STAT4
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.010 1.000 1 2017 2017
dbSNP: rs10876994
rs10876994 		2 0.925 0.120 12 57670954 upstream gene variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12044852
rs12044852
CD58 ; LOC105378925
2 0.925 0.120 1 116545157 intron variant C/A snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs12288280
rs12288280
CD6
1 1.000 0.120 11 60988884 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1234315
rs1234315
TNFSF4
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs13426947
rs13426947
STAT4
2 0.925 0.200 2 191068528 3 prime UTR variant G/A snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs1411751
rs1411751
GPC5
2 0.925 0.120 13 92245255 intron variant G/A snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs150587304
rs150587304
AQP4 ; AQP4-AS1
1 1.000 0.120 18 26862573 stop gained C/A;G snv 3.2E-05; 2.9E-04 0.010 1.000 1 2011 2011
dbSNP: rs1520333
rs1520333
PKIA-AS1 ; LOC105375911
2 0.925 0.120 8 78488803 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2017 2017
dbSNP: rs2075575
rs2075575
AQP4 ; AQP4-AS1
5 0.851 0.200 18 26866562 intron variant G/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2282284
rs2282284
FCRL3
2 0.925 0.120 1 157678753 missense variant T/C snv 5.4E-02 5.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs2887502
rs2887502
LOC105375914
2 0.925 0.120 8 78844356 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs3135388
rs3135388
HLA-DRA
7 0.807 0.240 6 32445274 downstream gene variant A/G snv 0.90 0.010 < 0.001 1 2010 2010
dbSNP: rs3761959
rs3761959
FCRL3
7 0.827 0.320 1 157699488 intron variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3765459
rs3765459
CD40
7 0.807 0.280 20 46128768 intron variant G/A;C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs3808607
rs3808607
CYP7A1
16 0.716 0.400 8 58500365 upstream gene variant G/T snv 0.55 0.010 1.000 1 2010 2010
dbSNP: rs4149577
rs4149577
TNFRSF1A
7 0.827 0.280 12 6338356 intron variant G/A;T snv 0.010 1.000 1 2013 2013