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: rs6147150
rs6147150
ERBB4
5 0.827 0.160 2 211380365 3 prime UTR variant -/AAAATAGGATTG delins 0.010 1.000 1 2016 2016
dbSNP: rs371194629
rs371194629
HLA-G
8 0.790 0.320 6 29830804 3 prime UTR variant -/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT ins 0.010 1.000 1 2017 2017
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2008 2008
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 < 0.001 1 2014 2014
dbSNP: rs28381975
rs28381975
PDCD6IP ; LOC105377023
5 0.827 0.200 3 33798239 intron variant -/TTACGTACCTGTGCA;TTCCGTACCTGTGCA;TTTCGTACCTGTGCA delins 0.010 1.000 1 2013 2013
dbSNP: rs12304647
rs12304647
HOXC6 ; MIR196A2
6 0.807 0.160 12 53991163 intron variant A/C snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs2239704
rs2239704
LTA ; LOC100287329
17 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs2241715
rs2241715
TGFB1
4 0.851 0.120 19 41350981 5 prime UTR variant A/C snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs2856822
rs2856822
HLA-DPA1 ; HLA-DPB1 ; RPL32P1
1 1.000 0.080 6 33079655 non coding transcript exon variant A/C snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs3135402
rs3135402 		1 1.000 0.080 6 33056877 regulatory region variant A/C snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs422544
rs422544 		2 0.925 0.120 6 33058333 regulatory region variant A/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs4309483
rs4309483 		2 0.925 0.120 18 58418685 downstream gene variant A/C snv 0.70 0.010 1.000 1 2014 2014
dbSNP: rs6568431
rs6568431
ATG5
7 0.790 0.320 6 106140931 intron variant A/C snv 0.61 0.010 1.000 1 2019 2019
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.010 1.000 1 2019 2019
dbSNP: rs9269081
rs9269081
HLA-DRB9
4 0.851 0.280 6 32473323 intron variant A/C snv 0.69 0.700 1.000 1 2013 2013
dbSNP: rs9469341
rs9469341
HLA-DPA1
1 1.000 0.080 6 33068100 3 prime UTR variant A/C;G snv 0.700 1.000 2 2011 2013
dbSNP: rs2395535
rs2395535 		1 1.000 0.080 6 32689574 TF binding site variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs2723176
rs2723176
IL37
4 0.851 0.200 2 112914932 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs3179779
rs3179779
HLA-DPA1
1 1.000 0.080 6 33068192 3 prime UTR variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs9530614
rs9530614
ACOD1 ; LOC105370269
1 1.000 0.080 13 76953572 intron variant A/C;G snv 6.7E-06; 0.47 0.010 1.000 1 2017 2017
dbSNP: rs3024490
rs3024490
IL10 ; IL19
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3130779
rs3130779 		5 0.925 0.080 6 30904426 upstream gene variant A/C;G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2524060
rs2524060
HLA-B ; LINC02571 ; LOC112267902
2 0.925 0.120 6 31299645 intron variant A/C;T snv 0.700 1.000 1 2013 2013
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