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: rs5569
rs5569
19 0.742 0.280 16 55697923 synonymous variant G/A;C snv 0.31; 4.0E-06 0.100 0.929 14 1999 2019
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.100 0.933 15 2000 2019
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.020 0.500 2 2001 2005
dbSNP: rs6314
rs6314
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.020 1.000 2 2001 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.070 0.714 7 2002 2019
dbSNP: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.862 58 2003 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.826 46 2003 2019
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.020 1.000 2 2003 2017
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.090 0.778 9 2004 2017
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 23 2005 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.800 10 2005 2017
dbSNP: rs1352618632
rs1352618632
2 0.925 0.040 13 33112802 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs140504
rs140504
3 0.882 0.040 22 23285182 missense variant A/G snv 0.81 0.86 0.010 1.000 1 2005 2005
dbSNP: rs988748
rs988748
3 0.882 0.120 11 27703198 intron variant C/G snv 0.83 0.010 1.000 1 2005 2005
dbSNP: rs2230912
rs2230912
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.070 0.714 7 2006 2018
dbSNP: rs120074175
rs120074175
7 0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06 0.030 1.000 3 2006 2015
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.020 1.000 2 2006 2009
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.020 1.000 2 2006 2014
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.020 < 0.001 2 2006 2013
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.050 0.600 5 2007 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.030 0.333 3 2007 2019
dbSNP: rs242939
rs242939
3 0.882 0.120 17 45818213 intron variant C/T snv 0.86 0.030 1.000 3 2007 2013
dbSNP: rs242941
rs242941
9 0.790 0.200 17 45815154 intron variant A/C snv 0.62 0.030 1.000 3 2007 2013
dbSNP: rs1876828
rs1876828
4 0.851 0.160 17 45834159 intron variant C/T snv 0.14 0.010 1.000 1 2007 2007