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: rs6094753
rs6094753
1 20 47630030 intron variant G/A snv 0.47 0.010 1.000 1 2015 2015
dbSNP: rs672059
rs672059
1 1 183193404 intron variant G/A snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs7016880
rs7016880
2 8 20019235 intergenic variant G/C snv 8.5E-02 0.800 1.000 1 2010 2010
dbSNP: rs754698878
rs754698878
1 16 869919 stop gained G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs759009903
rs759009903
ACE
1 17 63484413 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2002 2002
dbSNP: rs777407596
rs777407596
2 11 116837145 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs912378886
rs912378886
1 19 4155009 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs9644568
rs9644568
3 8 20071071 intergenic variant G/A snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs9906543
rs9906543
1 17 37162308 intron variant T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs9949617
rs9949617
2 18 23299253 intron variant C/T snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2007 2007
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2006 2006
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2006 2013
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2015 2015
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2010 2015
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2015 2015
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2011 2012
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2017 2017
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.040 0.750 4 1993 2004
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2001 2010
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.010 1.000 1 2015 2015