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: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2013 2013
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2015 2019
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2013 2013
dbSNP: rs4751240
rs4751240
DOCK1
3 0.882 0.120 10 127338145 intron variant G/A snv 9.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 < 0.001 1 2017 2017
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs140693
rs140693
MBD4
10 0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.040 1.000 4 2011 2014
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.020 0.500 2 2015 2015
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 < 0.001 1 2018 2018
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17868323
rs17868323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
2 0.925 0.160 2 233682324 missense variant T/A;G snv 0.59 0.010 1.000 1 2002 2002
dbSNP: rs386656364
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 missense variant CG/AA mnv 0.010 1.000 1 2002 2002
dbSNP: rs771314938
rs771314938
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 frameshift variant CG/- del 0.010 1.000 1 2002 2002
dbSNP: rs879625015
rs879625015
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 frameshift variant CG/A delins 0.010 1.000 1 2002 2002
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.030 1.000 3 2012 2019
dbSNP: rs1801275
rs1801275
IL4R
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 1.000 1 2017 2017
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs41526344
rs41526344
CNTN4
2 0.925 0.120 3 2943458 intron variant G/A snv 7.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs6505162
rs6505162
NSRP1 ; MIR423 ; MIR3184
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2013 2013