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: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2016 2016
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2005 2005
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 < 0.001 1 2018 2018
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs2292832
rs2292832
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs755622
rs755622
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 < 0.001 1 2017 2017
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2008 2008
dbSNP: rs113624356
rs113624356
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 0
dbSNP: rs549908
rs549908
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.010 1.000 1 2018 2018
dbSNP: rs5844572
rs5844572
11 0.752 0.360 22 23893562 intron variant -/ATTC delins 0.010 1.000 1 2017 2017
dbSNP: rs13198304
rs13198304
3 0.882 0.120 6 6356249 intron variant C/T snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs17095355
rs17095355
2 0.925 0.080 10 109975992 intron variant C/T snv 0.22 0.840 1.000 5 2010 2018
dbSNP: rs10509906
rs10509906
2 0.925 0.080 10 109997916 intron variant G/A;C snv 0.020 0.500 2 2014 2018
dbSNP: rs2501577
rs2501577
2 0.925 0.080 10 110086929 intron variant A/G snv 0.37 0.020 1.000 2 2018 2018
dbSNP: rs3126184
rs3126184
2 0.925 0.080 14 49905817 upstream gene variant T/C snv 0.87 0.010 1.000 1 2015 2015
dbSNP: rs3828336
rs3828336
2 0.925 0.080 2 240451099 non coding transcript exon variant C/G;T snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs7251432
rs7251432
2 0.925 0.080 19 35284538 non coding transcript exon variant A/G;T snv 0.43 0.010 1.000 1 2008 2008
dbSNP: rs835576
rs835576
2 0.925 0.080 1 119912963 3 prime UTR variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs916145
rs916145
2 0.925 0.080 19 35276981 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs11101722
rs11101722
1 1.000 0.080 10 133376925 upstream gene variant T/C snv 8.0E-03 0.700 1.000 1 2010 2010
dbSNP: rs17139085
rs17139085
1 1.000 0.080 16 6000072 intron variant G/A snv 6.2E-02 0.700 1.000 1 2010 2010
dbSNP: rs2510389
rs2510389
1 1.000 0.080 11 68640536 intergenic variant C/T snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs3755256
rs3755256
1 1.000 0.080 2 10426288 3 prime UTR variant G/A snv 0.19 0.700 1.000 1 2010 2010