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: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.030 0.667 3 2003 2016
dbSNP: rs758801521
rs758801521
4 0.882 0.160 8 26770618 missense variant A/G snv 4.0E-06 0.030 1.000 3 2006 2015
dbSNP: rs777208537
rs777208537
REN
2 1.000 0.040 1 204156313 synonymous variant A/G snv 4.0E-06 0.030 1.000 3 1999 2003
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2016 2017
dbSNP: rs10719
rs10719
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.020 1.000 2 2015 2017
dbSNP: rs10887800
rs10887800
11 0.790 0.280 10 88316086 intron variant A/G;T snv 0.020 1.000 2 2013 2019
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2013
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 0.500 2 2011 2014
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.020 1.000 2 2013 2015
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2009 2015
dbSNP: rs137853092
rs137853092
5 0.851 0.240 17 42787494 missense variant C/G snv 0.020 1.000 2 2004 2005
dbSNP: rs1415088003
rs1415088003
ACE
7 0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06 0.020 1.000 2 2006 2016
dbSNP: rs148446907
rs148446907
AGT
3 0.925 0.080 1 230710026 synonymous variant G/A;C snv 1.2E-05 0.020 1.000 2 2000 2003
dbSNP: rs167479
rs167479
5 19 11416089 missense variant T/A;C;G snv 0.700 1.000 2 2016 2016
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 1.000 2 2008 2015
dbSNP: rs1799979
rs1799979
2 1.000 0.040 16 23380659 missense variant C/G;T snv 8.1E-06; 2.1E-03 0.020 1.000 2 2004 2004
dbSNP: rs1800764
rs1800764
10 0.790 0.320 17 63473168 upstream gene variant C/G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.020 1.000 2 2005 2011
dbSNP: rs2004776
rs2004776
AGT
5 1 230712956 intron variant C/G;T snv 0.020 1.000 2 2011 2019
dbSNP: rs2305948
rs2305948
KDR
18 0.732 0.400 4 55113391 missense variant C/A;T snv 4.0E-06; 0.11 0.020 1.000 2 2016 2016
dbSNP: rs2681492
rs2681492
10 0.925 0.040 12 89619312 intron variant T/C;G snv 0.710 1.000 2 2013 2018
dbSNP: rs28357984
rs28357984
COX1 ; ND2
6 0.851 0.160 MT 5178 missense variant C/A snv 0.020 1.000 2 2007 2009
dbSNP: rs2932538
rs2932538
4 1 112673921 intron variant A/C;G snv 0.810 1.000 2 2011 2013
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.020 1.000 2 2006 2019
dbSNP: rs4373814
rs4373814
5 10 18131043 intergenic variant G/C;T snv 0.810 1.000 2 2011 2013