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: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.030 1.000 3 2015 2016
dbSNP: rs6330
rs6330
12 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 0.020 0.500 2 2008 2012
dbSNP: rs10801153
rs10801153
3 0.925 0.080 1 192794818 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs112146896
rs112146896
2 1.000 0.040 1 15418527 intron variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1192553
rs1192553
1 1 17967858 intergenic variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs228697
rs228697
5 0.882 0.080 1 7827519 missense variant C/G snv 8.7E-02 7.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs2478813
rs2478813
4 0.882 0.080 1 208073865 intron variant A/G snv 0.85 0.010 1.000 1 2007 2007
dbSNP: rs4606
rs4606
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs4951043
rs4951043
1 1 204105737 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs57875989
rs57875989
7 0.882 0.080 1 7829913 splice acceptor variant GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC/-;GCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCCATCCTACTGCCAGC delins 0.11 0.18 0.010 1.000 1 2018 2018
dbSNP: rs7528604
rs7528604
3 0.925 0.040 1 65941669 intron variant G/A snv 0.42 0.710 1.000 1 2019 2019
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2018 2018
dbSNP: rs79928194
rs79928194
1 2 232784580 intron variant T/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs8192506
rs8192506
DBI
2 1.000 0.040 2 119372265 missense variant A/C;G snv 4.0E-06; 2.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs1709393
rs1709393
2 1.000 0.080 3 101980310 intron variant C/T snv 0.55 0.700 1.000 2 2016 2019
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.020 1.000 2 2011 2012
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2016 2017
dbSNP: rs2268498
rs2268498
7 0.827 0.080 3 8770725 intron variant T/C snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2013 2013
dbSNP: rs9875578
rs9875578
1 3 13752941 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2013 2020
dbSNP: rs17536211
rs17536211
3 1.000 0.040 4 46085716 intron variant A/C snv 0.14 0.010 1.000 1 2011 2011
dbSNP: rs1870377
rs1870377
KDR
25 0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 0.010 1.000 1 2019 2019
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.010 1.000 1 2019 2019