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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.914 58 1998 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.100 0.789 19 2008 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.100 0.789 19 2008 2019
dbSNP: rs11833579
rs11833579
6 0.827 0.200 12 666033 upstream gene variant G/A snv 0.25 0.100 0.727 11 2010 2019
dbSNP: rs12425791
rs12425791
4 0.882 0.120 12 674318 downstream gene variant G/A;C snv 0.890 0.900 10 2009 2016
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.780 0.875 8 2007 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 1.000 8 2006 2018
dbSNP: rs2107595
rs2107595
15 0.732 0.280 7 19009765 regulatory region variant G/A snv 0.19 0.850 1.000 7 2012 2019
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.810 1.000 6 2001 2016
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.060 0.833 6 2005 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.060 1.000 6 1995 2019
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.050 1.000 5 1999 2016
dbSNP: rs10507391
rs10507391
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.040 1.000 4 2011 2016
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.040 0.750 4 2009 2012
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.720 1.000 4 2009 2016
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.040 1.000 4 2005 2018
dbSNP: rs2200733
rs2200733
12 0.752 0.240 4 110789013 intergenic variant C/T snv 0.18 0.820 1.000 4 2008 2013
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2011 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.030 1.000 3 2010 2012
dbSNP: rs11196288
rs11196288
2 1.000 0.080 10 113297684 regulatory region variant A/G snv 5.5E-02 0.030 0.667 3 2016 2019
dbSNP: rs11984041
rs11984041
3 0.925 0.080 7 18992312 intron variant C/T snv 0.13 0.830 1.000 3 2012 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.030 1.000 3 2003 2019
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.030 1.000 3 2009 2014
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 2002 2014
dbSNP: rs201118034
rs201118034
6 0.827 0.200 19 15187315 missense variant G/A;C snv 3.2E-04; 4.0E-06 0.030 1.000 3 2013 2019