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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.050 1.000 5 2003 2015
dbSNP: rs28360317
rs28360317
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.020 1.000 2 2008 2008
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2012 2012
dbSNP: rs2120243
rs2120243
3 0.925 0.200 3 157429779 intron variant A/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs11788747
rs11788747
6 0.851 0.240 9 36105267 synonymous variant A/C;G snv 4.0E-06; 0.34 0.010 < 0.001 1 2011 2011
dbSNP: rs629849
rs629849
9 0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91 0.010 1.000 1 2012 2012
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2015 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2002 2017
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.020 0.500 2 2009 2019
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2011 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2008 2016
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 < 0.001 1 2019 2019
dbSNP: rs132770
rs132770
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.010 1.000 1 2008 2008
dbSNP: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs1776148
rs1776148
9 0.807 0.160 1 241879243 missense variant A/G snv 0.66 0.66 0.010 1.000 1 2009 2009
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1926447
rs1926447
11 0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77 0.010 1.000 1 2007 2007
dbSNP: rs1950252
rs1950252
2 1.000 0.080 14 23309489 3 prime UTR variant A/G snv 0.93 0.010 1.000 1 2015 2015
dbSNP: rs2274223
rs2274223
40 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 0.010 1.000 1 2013 2013
dbSNP: rs34009635
rs34009635
17 0.716 0.360 11 102713445 missense variant A/G snv 2.5E-03 6.2E-04 0.010 < 0.001 1 2018 2018
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 2017 2017
dbSNP: rs3754093
rs3754093
11 0.776 0.240 1 241846814 upstream gene variant A/G snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs3757769
rs3757769
2 1.000 0.080 7 127901009 intron variant A/G snv 9.7E-02 0.010 1.000 1 2020 2020
dbSNP: rs642961
rs642961
14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.010 1.000 1 2019 2019
dbSNP: rs8181047
rs8181047
7 0.807 0.120 9 22064466 intron variant A/G snv 0.79 0.700 1.000 1 2016 2016