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: rs121908025
rs121908025
6 0.851 0.080 19 11102732 missense variant T/C;G snv 2.8E-05 7.0E-06 0.040 1.000 4 1996 2001
dbSNP: rs368657165
rs368657165
7 0.827 0.080 19 11107436 stop gained G/A;T snv 4.0E-05 0.020 1.000 2 1994 1996
dbSNP: rs1035071612
rs1035071612
9 0.763 0.240 19 11113361 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1057519661
rs1057519661
5 0.882 0.080 19 11105587 frameshift variant C/- del 0.010 1.000 1 2014 2014
dbSNP: rs11887534
rs11887534
29 0.653 0.440 2 43839108 missense variant G/A;C snv 6.4E-06; 6.7E-02 0.010 1.000 1 2009 2009
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 2009 2009
dbSNP: rs121908028
rs121908028
6 0.851 0.080 19 11105587 missense variant C/A;G;T snv 8.1E-06; 8.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs121908033
rs121908033
5 0.882 0.080 19 11105429 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121908037
rs121908037
3 0.882 0.080 19 11129654 missense variant G/A snv 0.010 1.000 1 1995 1995
dbSNP: rs121908038
rs121908038
3 0.882 0.080 19 11113293 missense variant T/A snv 0.010 1.000 1 1995 1995
dbSNP: rs1249040838
rs1249040838
5 0.827 0.120 19 11113699 missense variant G/A snv 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs137852912
rs137852912
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs138947766
rs138947766
6 0.851 0.080 19 11116883 stop gained G/A;C snv 8.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2004 2004
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2006 2006
dbSNP: rs2230806
rs2230806
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2004 2004
dbSNP: rs28942078
rs28942078
7 0.827 0.080 19 11113376 missense variant G/A;C;T snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs28942084
rs28942084
11 0.763 0.200 19 11120436 missense variant C/A;T snv 2.8E-05 4.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs3846662
rs3846662
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.010 1.000 1 2016 2016
dbSNP: rs4148217
rs4148217
11 0.790 0.280 2 43872294 missense variant C/A;T snv 0.21; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs4149056
rs4149056
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2006 2006
dbSNP: rs5742904
rs5742904
22 0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04 0.010 1.000 1 1992 1992
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.010 1.000 1 2018 2018