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: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.826 46 2003 2019
dbSNP: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.100 0.929 14 1999 2019
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.090 1.000 9 2010 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.070 0.714 7 2002 2019
dbSNP: rs2242446
rs2242446
9 0.776 0.080 16 55656513 5 prime UTR variant C/A;T snv 0.060 0.833 6 2008 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2012 2017
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.050 0.600 5 2007 2019
dbSNP: rs2535629
rs2535629
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.820 1.000 4 2013 2019
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.030 1.000 3 2012 2016
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.030 1.000 3 2009 2016
dbSNP: rs12415800
rs12415800
1 1.000 0.040 10 67864422 intergenic variant G/A;C snv 0.720 1.000 3 2018 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 0.333 3 2007 2019
dbSNP: rs7124442
rs7124442
9 0.827 0.160 11 27655494 3 prime UTR variant C/G;T snv 0.030 0.667 3 2010 2013
dbSNP: rs10789340
rs10789340
2 0.925 0.120 1 72474590 intron variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs11599236
rs11599236
2 1.000 0.040 10 104694914 intron variant T/C;G snv 0.700 1.000 2 2018 2018
dbSNP: rs12520799
rs12520799
1 1.000 0.040 5 135446760 stop gained T/A;C snv 0.51 0.020 0.500 2 2011 2013
dbSNP: rs1354115
rs1354115
1 1.000 0.040 9 2983774 intron variant C/A;T snv 0.700 1.000 2 2018 2019
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.020 1.000 2 2011 2013
dbSNP: rs17641524
rs17641524
2 0.925 0.120 1 197735587 splice region variant C/G;T snv 4.0E-06; 0.17 0.700 1.000 2 2018 2019
dbSNP: rs2287161
rs2287161
7 0.827 0.080 12 106987362 upstream gene variant C/G;T snv 0.020 1.000 2 2014 2018
dbSNP: rs3793577
rs3793577
1 1.000 0.040 9 23737629 intron variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.020 1.000 2 2006 2009
dbSNP: rs454214
rs454214
1 1.000 0.040 5 88707586 intron variant C/A;T snv 0.700 1.000 2 2016 2018
dbSNP: rs4765905
rs4765905
6 0.827 0.040 12 2240418 intron variant G/A;C snv 0.710 1.000 2 2011 2016
dbSNP: rs4765914
rs4765914
2 0.925 0.040 12 2311211 intron variant T/C;G snv 0.800 1.000 2 2013 2019