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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.917 24 1998 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.870 23 1996 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.850 20 1995 2016
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.100 1.000 15 2008 2019
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.900 0.923 13 2007 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.100 0.800 10 1995 2007
dbSNP: rs4977574
rs4977574
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.880 1.000 10 2007 2018
dbSNP: rs10757274
rs10757274
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.090 1.000 9 2008 2018
dbSNP: rs2383207
rs2383207
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.770 1.000 8 2007 2013
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.080 0.750 8 2004 2014
dbSNP: rs6929846
rs6929846
10 0.827 0.160 6 26458037 5 prime UTR variant T/C snv 0.70 0.780 1.000 8 2011 2014
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.070 0.714 7 1999 2014
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.070 0.857 7 2000 2010
dbSNP: rs3850641
rs3850641
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.060 1.000 6 2005 2019
dbSNP: rs5174
rs5174
10 0.776 0.240 1 53247055 missense variant C/T snv 0.29 0.28 0.060 0.833 6 2007 2014
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.060 0.833 6 2008 2015
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.050 1.000 5 2002 2018
dbSNP: rs17465637
rs17465637
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.840 1.000 5 2008 2012
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.050 0.600 5 2003 2015
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.050 0.800 5 2001 2012
dbSNP: rs1866389
rs1866389
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.050 0.800 5 2002 2019
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.050 1.000 5 2013 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.800 5 2003 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2009 2014
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.040 1.000 4 2003 2011