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: rs3733197
rs3733197
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.020 1.000 2 2009 2010
dbSNP: rs3790566
rs3790566
1 1.000 0.040 1 67348757 intron variant T/C snv 0.61 0.800 1.000 2 2013 2019
dbSNP: rs3894194
rs3894194
3 0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41 0.710 1.000 2 2017 2018
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.020 0.500 2 2011 2016
dbSNP: rs443198
rs443198
4 0.851 0.200 6 32222629 synonymous variant A/G snv 0.38 0.39 0.800 1.000 2 2010 2011
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.020 1.000 2 2012 2013
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.020 1.000 2 2010 2017
dbSNP: rs6457617
rs6457617
11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.800 1.000 2 2010 2011
dbSNP: rs844648
rs844648
6 0.807 0.280 1 173254724 regulatory region variant G/A snv 0.46 0.020 1.000 2 2010 2012
dbSNP: rs9275390
rs9275390
3 0.882 0.120 6 32701379 downstream gene variant T/C snv 0.30 0.800 1.000 2 2010 2011
dbSNP: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1005714
rs1005714
1 1.000 0.040 17 75228544 5 prime UTR variant G/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs10168266
rs10168266
8 0.776 0.400 2 191071078 intron variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs10178332
rs10178332
2 0.925 0.120 2 11268891 intron variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs10186029
rs10186029
1 1.000 0.040 2 213064562 intron variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs10220668
rs10220668
1 1.000 0.040 14 59042487 intron variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs1035798
rs1035798
1 1.000 0.040 6 32183445 splice region variant G/A snv 0.24 0.19 0.700 1.000 1 2010 2010
dbSNP: rs10406069
rs10406069
1 1.000 0.040 19 35345627 missense variant G/A;C snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs10413500
rs10413500
1 1.000 0.040 19 35345923 intron variant C/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs10419538
rs10419538
1 1.000 0.040 19 35333116 intron variant C/G snv 0.11 0.010 1.000 1 2012 2012
dbSNP: rs10498070
rs10498070
2 0.925 0.080 2 219833404 intergenic variant A/C snv 0.39 0.800 1.000 1 2013 2013
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 < 0.001 1 2010 2010
dbSNP: rs10499197
rs10499197
2 0.925 0.080 6 137811379 intergenic variant T/G snv 2.4E-02 0.800 1.000 1 2013 2013
dbSNP: rs10744676
rs10744676
2 0.925 0.080 12 5043783 upstream gene variant C/T snv 0.88 0.010 1.000 1 2010 2010
dbSNP: rs10865710
rs10865710
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2015 2015