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 0.927 41 1999 2017
dbSNP: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.100 0.842 38 1998 2020
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.100 0.786 28 1997 2015
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.100 0.833 12 2001 2017
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.080 0.750 8 2006 2019
dbSNP: rs16998073
rs16998073
10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.760 0.857 7 2010 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.060 0.667 6 2001 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.060 0.833 6 2008 2015
dbSNP: rs41511344
rs41511344
5 0.882 0.040 4 148152550 stop gained G/A;T snv 0.060 0.833 6 2000 2005
dbSNP: rs1024323
rs1024323
4 0.882 0.160 4 3004316 missense variant C/A;G;T snv 0.36 0.050 1.000 5 2006 2017
dbSNP: rs1378942
rs1378942
CSK
16 0.790 0.240 15 74785026 intron variant C/A;T snv 0.050 0.800 5 2012 2018
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.050 0.800 5 2011 2019
dbSNP: rs2296545
rs2296545
8 0.851 0.160 10 88583080 missense variant C/G;T snv 0.46 0.050 0.800 5 2011 2016
dbSNP: rs7119375
rs7119375
2 1.000 0.040 11 57238490 upstream gene variant A/G;T snv 0.050 1.000 5 2009 2016
dbSNP: rs1468326
rs1468326
1 12 748335 upstream gene variant A/C;T snv 0.040 1.000 4 2005 2018
dbSNP: rs1801058
rs1801058
4 0.882 0.120 4 3037423 missense variant T/C;G snv 0.62 0.040 1.000 4 2010 2017
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.040 1.000 4 2010 2017
dbSNP: rs4606
rs4606
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.040 1.000 4 2013 2018
dbSNP: rs1012841819
rs1012841819
4 0.882 0.160 2 96115728 missense variant G/A snv 4.0E-06 0.030 1.000 3 2006 2015
dbSNP: rs12140311
rs12140311
3 1.000 0.040 1 16052230 missense variant A/C;T snv 8.0E-06; 9.6E-02 0.030 0.667 3 2005 2009
dbSNP: rs1397858410
rs1397858410
1 14 92932714 missense variant G/A snv 0.030 1.000 3 2007 2016
dbSNP: rs1462059537
rs1462059537
4 0.882 0.160 4 147535944 missense variant C/T snv 8.0E-06 0.030 1.000 3 2006 2015
dbSNP: rs1565930588
rs1565930588
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.030 1.000 3 2014 2018
dbSNP: rs5068
rs5068
13 0.776 0.160 1 11845917 3 prime UTR variant A/G;T snv 0.030 1.000 3 2009 2017