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: rs2738048
rs2738048
1 1.000 0.120 8 6965263 downstream gene variant A/G snv 0.28 0.810 1.000 4 2011 2015
dbSNP: rs9275596
rs9275596
7 0.827 0.280 6 32713854 upstream gene variant C/T snv 0.66 0.720 1.000 3 2014 2017
dbSNP: rs12716641
rs12716641
1 1.000 0.120 8 7041476 upstream gene variant T/A;C snv 0.710 1.000 2 2014 2015
dbSNP: rs2738058
rs2738058
2 0.925 0.160 8 6964095 upstream gene variant T/C snv 0.57 0.710 1.000 2 2014 2015
dbSNP: rs2856717
rs2856717
2 1.000 0.120 6 32702531 downstream gene variant A/G snv 0.64 0.710 1.000 2 2014 2017
dbSNP: rs10086568
rs10086568
2 1.000 0.120 8 7042814 upstream gene variant G/A snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs11150612
rs11150612
1 1.000 0.120 16 31346439 intergenic variant G/A snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs1369270
rs1369270
1 1.000 0.120 2 153179546 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1794275
rs1794275
2 1.000 0.120 6 32703471 downstream gene variant G/A snv 0.21 0.800 1.000 1 2011 2011
dbSNP: rs2033562
rs2033562
1 1.000 0.120 8 102535511 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2615787
rs2615787
1 1.000 0.120 8 6953627 upstream gene variant T/G snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs2738081
rs2738081
1 1.000 0.120 8 6957996 downstream gene variant G/T snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs3129269
rs3129269
1 1.000 0.120 6 33129837 downstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs4288398
rs4288398
1 1.000 0.120 8 7024116 downstream gene variant A/G snv 0.70 0.010 1.000 1 2014 2014
dbSNP: rs6984215
rs6984215
1 1.000 0.120 8 7027356 downstream gene variant T/C snv 0.30 0.010 1.000 1 2014 2014
dbSNP: rs7763262
rs7763262
1 1.000 0.120 6 32457105 downstream gene variant T/C snv 0.70 0.700 1.000 1 2014 2014
dbSNP: rs9275224
rs9275224
5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.700 1.000 1 2014 2014
dbSNP: rs2074038
rs2074038
1 1.000 0.120 11 44066439 5 prime UTR variant G/T snv 8.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.070 1.000 7 1997 2010
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2015 2015
dbSNP: rs887280103
rs887280103
ACE
1 1.000 0.120 17 63477294 missense variant C/G snv 1.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs4849121
rs4849121
3 0.925 0.160 2 110842129 intron variant G/A snv 0.44 0.800 1.000 1 2011 2011
dbSNP: rs12615793
rs12615793
4 0.851 0.280 2 54248777 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs843720
rs843720
10 0.752 0.280 2 54283523 intron variant T/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.030 1.000 3 2003 2014