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: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 1.000 2 2010 2019
dbSNP: rs36208070
rs36208070
F7
1 1.000 0.040 13 113105519 upstream gene variant -/CCTATATCCT ins 0.010 1.000 1 2011 2011
dbSNP: rs3045215
rs3045215
3 0.882 0.040 1 234605171 3 prime UTR variant -/GTTACAATA;GTTATAATA delins 0.010 1.000 1 2015 2015
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2016 2016
dbSNP: rs133049
rs133049
4 0.882 0.080 22 40635351 intron variant A/- delins 0.82 0.010 1.000 1 2020 2020
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.800 1.000 3 2011 2016
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.030 1.000 3 2011 2015
dbSNP: rs10946398
rs10946398
7 0.827 0.160 6 20660803 intron variant A/C snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs11591710
rs11591710
3 0.882 0.160 10 103927874 intergenic variant A/C snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs12115090
rs12115090
3 0.882 0.040 8 75012585 intron variant A/C snv 0.33 0.44 0.010 1.000 1 2018 2018
dbSNP: rs1648707
rs1648707
3 0.925 0.080 3 186833922 intergenic variant A/C snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs181317402
rs181317402
3 0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs2596551
rs2596551
1 1.000 0.040 6 31364462 upstream gene variant A/C snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs2650000
rs2650000
10 0.851 0.200 12 120951159 intron variant A/C snv 0.70 0.700 1.000 1 2011 2011
dbSNP: rs2980853
rs2980853
16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs3093105
rs3093105
2 0.925 0.080 19 15897578 missense variant A/C snv 0.16 0.18 0.010 1.000 1 2014 2014
dbSNP: rs3734526
rs3734526
1 1.000 0.040 6 25779508 3 prime UTR variant A/C snv 6.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs525380
rs525380
1 1.000 0.040 1 20082881 intron variant A/C snv 0.55 0.010 < 0.001 1 2014 2014
dbSNP: rs6495122
rs6495122
6 1.000 0.040 15 74833304 downstream gene variant A/C snv 0.44 0.700 1.000 1 2011 2011
dbSNP: rs762642
rs762642
2 1.000 0.040 14 53956335 splice region variant A/C snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs8089
rs8089
4 0.851 0.080 6 169217631 splice region variant A/C snv 0.22 0.010 < 0.001 1 2011 2011
dbSNP: rs9283880
rs9283880
1 1.000 0.040 6 27747464 intergenic variant A/C snv 0.34 0.700 1.000 1 2012 2012
dbSNP: rs9351814
rs9351814
4 0.882 0.040 6 71484004 intergenic variant A/C snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs2943634
rs2943634
15 0.763 0.200 2 226203364 intergenic variant A/C;G snv 0.830 1.000 5 2007 2012
dbSNP: rs2246942
rs2246942
2 0.925 0.040 10 89245129 intron variant A/C;G snv 0.710 1.000 2 2011 2013