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: rs3836790
rs3836790
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2017 2017
dbSNP: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs146052672
rs146052672
5 0.851 0.160 6 34242693 intron variant -/C delins 0.010 1.000 1 2017 2017
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs312262690
rs312262690
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 < 0.001 1 2019 2019
dbSNP: rs36217263
rs36217263
KL
4 1.000 0.040 13 33015697 upstream gene variant A/- del 0.21 0.010 1.000 1 2020 2020
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.060 0.833 6 2013 2019
dbSNP: rs3761581
rs3761581
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.040 1.000 4 2009 2016
dbSNP: rs1050606
rs1050606
2 1.000 0.080 4 121696891 5 prime UTR variant A/C snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs113296370
rs113296370
3 1.000 0.040 2 43636315 upstream gene variant A/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs121912594
rs121912594
7 0.882 0.160 2 210675762 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs12500426
rs12500426
5 0.851 0.240 4 94593458 intron variant A/C snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs1372503923
rs1372503923
3 0.925 0.160 5 53048731 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs17030613
rs17030613
7 1 112648185 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs201739205
rs201739205
5 0.851 0.200 17 42552898 5 prime UTR variant A/C snv 7.8E-03 8.2E-03 0.010 1.000 1 2015 2015
dbSNP: rs2146204
rs2146204
1 1 168904861 intron variant A/C snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs316019
rs316019
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.010 1.000 1 2010 2010
dbSNP: rs35036378
rs35036378
5 0.851 0.200 14 64294403 5 prime UTR variant A/C snv 7.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.010 1.000 1 2019 2019
dbSNP: rs403814
rs403814
1 18 6282594 intron variant A/C snv 0.27 0.710 1.000 1 2016 2016
dbSNP: rs4387287
rs4387287
4 10 103918139 5 prime UTR variant A/C snv 0.69 0.700 1.000 1 2016 2016
dbSNP: rs4686340
rs4686340
2 3 9303534 intron variant A/C snv 0.80 0.700 1.000 1 2012 2012
dbSNP: rs4833103
rs4833103
5 0.925 0.160 4 38813881 intron variant A/C snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs4900318
rs4900318
1 14 96222623 intron variant A/C snv 0.54 0.010 1.000 1 2011 2011