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: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2014 2014
dbSNP: rs344781
rs344781
7 0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs34826052
rs34826052
1 1.000 0.040 19 35345697 synonymous variant C/A;T snv 4.0E-02; 7.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2017 2017
dbSNP: rs76246107
rs76246107
4 0.851 0.160 19 49618017 intron variant G/A snv 7.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.040 1.000 4 2011 2017
dbSNP: rs35996865
rs35996865
4 0.851 0.280 18 21112383 upstream gene variant T/G snv 0.28 0.010 1.000 1 2016 2016
dbSNP: rs4941246
rs4941246
1 1.000 0.040 18 64135070 intron variant C/T snv 0.60 0.700 1.000 1 2013 2013
dbSNP: rs3894194
rs3894194
3 0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41 0.710 1.000 2 2017 2018
dbSNP: rs1005714
rs1005714
1 1.000 0.040 17 75228544 5 prime UTR variant G/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs12150220
rs12150220
14 0.724 0.360 17 5582047 missense variant A/T snv 0.37 0.33 0.010 1.000 1 2011 2011
dbSNP: rs2670660
rs2670660
15 0.708 0.400 17 5615686 intron variant A/G snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs4362
rs4362
ACE
9 0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 0.010 1.000 1 2009 2009
dbSNP: rs4789182
rs4789182
1 1.000 0.040 17 75378864 intron variant G/A snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs4790797
rs4790797
1 1.000 0.040 17 5652037 intergenic variant G/A snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs8182352
rs8182352
5 0.827 0.160 17 5651667 intergenic variant T/C snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs883770
rs883770
1 1.000 0.040 17 39907128 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11117420
rs11117420
1 1.000 0.040 16 85938316 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11117432
rs11117432
4 0.851 0.200 16 85985665 upstream gene variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1143679
rs1143679
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.010 1.000 1 2012 2012
dbSNP: rs11642873
rs11642873
4 0.851 0.280 16 85958099 intergenic variant A/C snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs11860650
rs11860650
3 0.882 0.120 16 31315385 intron variant C/T snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs12711490
rs12711490
4 0.925 0.080 16 85939422 intron variant T/C snv 0.18 0.800 1.000 1 2013 2013
dbSNP: rs2280381
rs2280381
3 0.882 0.080 16 85985027 intron variant C/T snv 0.64 0.010 1.000 1 2013 2013
dbSNP: rs2359661
rs2359661
1 1.000 0.040 16 31269826 intron variant A/G snv 0.48 0.700 1.000 1 2013 2013