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: rs10808546
rs10808546
7 8 125483576 intron variant C/T snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs11634397
rs11634397
2 1.000 0.080 15 80139880 downstream gene variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs1260333
rs1260333
12 0.882 0.160 2 27525757 downstream gene variant A/G snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs1263163
rs1263163
2 11 116802796 intergenic variant G/A snv 0.10 0.010 1.000 1 2017 2017
dbSNP: rs1558861
rs1558861
5 11 116736721 regulatory region variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs2001945
rs2001945
10 8 125465736 upstream gene variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4635554
rs4635554
1 2 21166787 intergenic variant T/G snv 0.37 0.800 1.000 1 2010 2010
dbSNP: rs633389
rs633389
4 1.000 0.040 11 116796621 upstream gene variant C/T snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs6982502
rs6982502
6 0.882 0.080 8 125467120 intron variant C/T snv 0.62 0.700 1.000 1 2017 2017
dbSNP: rs7016880
rs7016880
2 8 20019235 intergenic variant G/C snv 8.5E-02 0.800 1.000 1 2010 2010
dbSNP: rs7350481
rs7350481
8 0.882 0.040 11 116715567 regulatory region variant T/C snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs9644568
rs9644568
3 8 20071071 intergenic variant G/A snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs1378577
rs1378577
2 1.000 0.080 21 42199555 upstream gene variant T/G snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs57137919
rs57137919
9 0.776 0.160 21 42218908 intron variant G/A snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs12453407
rs12453407
1 17 37232521 intron variant A/G snv 0.65 0.010 1.000 1 2009 2009
dbSNP: rs1266175
rs1266175
1 17 37111115 intron variant A/G snv 0.54 0.010 1.000 1 2009 2009
dbSNP: rs2229416
rs2229416
1 17 37252940 synonymous variant C/T snv 0.18 0.12 0.010 1.000 1 2009 2009
dbSNP: rs9906543
rs9906543
1 17 37162308 intron variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs2241220
rs2241220
2 1.000 0.040 12 109237224 synonymous variant T/A;C;G snv 4.0E-06; 0.83 0.010 1.000 1 2008 2008
dbSNP: rs759009903
rs759009903
ACE
1 17 63484413 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2001 2010
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2017 2017
dbSNP: rs2074379
rs2074379
3 1.000 4 112431743 missense variant G/A snv 0.62 0.65 0.010 1.000 1 2015 2015
dbSNP: rs2074388
rs2074388
3 1.000 4 112431241 missense variant G/A snv 0.62 0.65 0.010 1.000 1 2015 2015