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: rs1799768
rs1799768
6 0.807 0.360 7 101126425 upstream gene variant -/A;C ins 0.010 1.000 1 2015 2015
dbSNP: rs139876191
rs139876191
1 1.000 0.120 6 34242693 intron variant -/C delins 7.7E-02; 5.8E-06 5.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs13163610
rs13163610
1 1.000 0.120 5 94213172 intron variant A/C snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1372503923
rs1372503923
3 0.925 0.160 5 53048731 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs3134069
rs3134069
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs9896052
rs9896052
3 0.882 0.160 17 75422781 intergenic variant A/C snv 0.50 0.700 1.000 1 2015 2015
dbSNP: rs14259
rs14259
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.030 1.000 3 2011 2015
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs35767
rs35767
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.060 0.833 6 2010 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 2003 2020
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 0.500 6 2006 2018
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.030 0.667 3 2006 2009
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.020 1.000 2 2012 2019
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.020 1.000 2 2014 2015
dbSNP: rs39059
rs39059
1 1.000 0.120 7 29215854 intron variant A/G snv 0.32 0.020 1.000 2 2011 2015
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2009 2009
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2013 2013
dbSNP: rs10507875
rs10507875
3 0.925 0.160 13 77943119 intron variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1057719
rs1057719
1 1.000 0.120 3 57927987 3 prime UTR variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs10738760
rs10738760
7 0.807 0.320 9 2691186 regulatory region variant A/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs11018670
rs11018670
2 0.925 0.160 11 89623460 intergenic variant A/G snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs11771617
rs11771617
1 1.000 0.120 7 125733372 intergenic variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs12050217
rs12050217
6 0.827 0.160 14 96262416 intron variant A/G snv 0.21 0.010 1.000 1 2019 2019