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: rs951436
rs951436
3 0.925 0.040 1 163063552 regulatory region variant A/C snv 0.42 0.010 1.000 1 2007 2007
dbSNP: rs9960767
rs9960767
3 0.925 0.040 18 55487771 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.090 1.000 9 2011 2015
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12836771
rs12836771
4 0.882 0.080 X 114650913 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2004 2004
dbSNP: rs187269
rs187269
6 0.827 0.160 5 161329618 3 prime UTR variant A/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2007044
rs2007044
6 0.882 0.040 12 2235794 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs2236418
rs2236418
6 0.882 0.120 10 26216567 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs4309482
rs4309482
3 0.925 0.040 18 55083238 intergenic variant A/G snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs61749465
rs61749465
5 0.851 0.120 8 6414832 missense variant A/G snv 2.1E-03 1.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs6465084
rs6465084
5 0.851 0.040 7 86774159 intron variant A/G snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs701428
rs701428
4 1.000 0.040 22 20241019 downstream gene variant A/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs737865
rs737865
11 0.763 0.240 22 19942598 intron variant A/G snv 0.23 0.010 1.000 1 2007 2007
dbSNP: rs7687423
rs7687423
3 0.925 0.080 4 163329645 intron variant A/G snv 0.53 0.010 1.000 1 2009 2009
dbSNP: rs7759855
rs7759855
3 0.925 0.040 6 28315086 downstream gene variant A/G snv 2.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs165940
rs165940
4 0.925 0.040 5 59383658 intron variant A/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs2619538
rs2619538
4 0.882 0.040 6 15664978 upstream gene variant A/T snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs2958182
rs2958182
5 0.882 0.040 18 55481790 intron variant A/T snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.020 0.500 2 2015 2019
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs3752088
rs3752088
2 1.000 0.040 18 50714891 intron variant C/A snv 0.51 0.010 1.000 1 2015 2015