Source: ALL
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: rs373154589
rs373154589
1 1.000 0.080 1 65616036 missense variant G/C snv 8.0E-06 1.4E-05 0.010 < 0.001 1 1998 1998
dbSNP: rs750136455
rs750136455
2 0.925 0.120 2 25161569 missense variant C/T snv 2.5E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs80326661
rs80326661
2 0.925 0.120 2 25161244 missense variant T/C snv 5.4E-03 5.4E-03 0.010 1.000 1 1998 1998
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.100 0.850 20 1999 2018
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.100 0.846 13 1999 2015
dbSNP: rs2229616
rs2229616
22 0.732 0.200 18 60372043 missense variant C/T snv 1.6E-02 1.6E-02 0.100 1.000 13 1999 2014
dbSNP: rs13447324
rs13447324
2 1.000 0.080 18 60372245 stop gained G/T snv 6.8E-05 1.3E-04 0.700 1.000 11 1999 2011
dbSNP: rs773641005
rs773641005
14 0.742 0.240 16 58723829 missense variant T/C snv 0.040 0.750 4 1999 2013
dbSNP: rs151102515
rs151102515
1 1.000 0.080 18 60371940 missense variant A/G snv 2.4E-05 2.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.100 0.786 14 2000 2017
dbSNP: rs747681609
rs747681609
1 1.000 0.080 18 60371856 missense variant C/T snv 2.4E-05 1.4E-05 0.700 1.000 8 2000 2014
dbSNP: rs121913566
rs121913566
2 0.925 0.080 18 60372165 missense variant T/C snv 4.0E-06 0.710 1.000 1 2000 2000
dbSNP: rs121964976
rs121964976
3 0.882 0.160 9 6589230 missense variant C/G;T snv 8.7E-05; 2.3E-02 0.700 1.000 1 2000 2000
dbSNP: rs78242624
rs78242624
1 1.000 0.080 5 71719917 missense variant G/A;C snv 4.0E-06; 1.0E-03 0.010 1.000 1 2000 2000
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.100 0.903 31 2001 2018
dbSNP: rs1137100
rs1137100
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.100 1.000 10 2001 2018
dbSNP: rs1805094
rs1805094
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.080 1.000 8 2001 2019
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.070 0.714 7 2001 2010
dbSNP: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.060 0.667 6 2001 2016
dbSNP: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.050 1.000 5 2001 2016
dbSNP: rs2281939
rs2281939
9 0.790 0.320 10 95414595 missense variant T/C snv 8.2E-02 0.13 0.010 1.000 1 2001 2001
dbSNP: rs757431022
rs757431022
3 0.925 0.120 10 95432529 missense variant G/A snv 1.4E-04 4.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs28932472
rs28932472
3 0.925 0.080 2 25161179 missense variant G/C snv 2.7E-03 2.8E-03 0.030 1.000 3 2002 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.030 1.000 3 2002 2012
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.020 1.000 2 2002 2012