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: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs2198532
rs2198532
1 1.000 0.040 2 3827777 intron variant T/C snv 0.79 0.010 < 0.001 1 2019 2019
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs2507800
rs2507800
2 1.000 0.040 8 107250441 3 prime UTR variant T/A snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs3756261
rs3756261
EGF
2 0.925 0.160 4 109911150 upstream gene variant T/C snv 9.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs7576192
rs7576192
2 1.000 0.040 2 120360455 intergenic variant A/G snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs7579169
rs7579169
2 1.000 0.040 2 120360548 intergenic variant T/C snv 0.68 0.010 1.000 1 2015 2015
dbSNP: rs770016471
rs770016471
ACE
1 1.000 0.040 17 63497260 missense variant C/G snv 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2000 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2011
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs2059806
rs2059806
7 0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26 0.010 1.000 1 2017 2017
dbSNP: rs780972489
rs780972489
1 1.000 0.040 19 18436831 synonymous variant C/T snv 8.9E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs779370907
rs779370907
1 1.000 0.040 19 18436405 synonymous variant C/T snv 6.0E-05 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs11549467
rs11549467
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.020 1.000 2 2008 2012
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 1999 1999
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800595
rs1800595
F5
2 0.925 0.080 1 169541110 missense variant T/C;G snv 5.7E-02 0.010 1.000 1 2012 2012