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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 < 0.001 1 2005 2005
dbSNP: rs2004640
rs2004640
26 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 < 0.001 1 2010 2010
dbSNP: rs352139
rs352139
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2010 2010
dbSNP: rs11981433
rs11981433
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs2246614
rs2246614
3 0.882 0.160 11 619789 missense variant T/G snv 0.63 0.59 0.010 1.000 1 2011 2011
dbSNP: rs2157257
rs2157257
1 1.000 0.160 22 36312293 intron variant A/G snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs11889341
rs11889341
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs2298804
rs2298804
4 0.851 0.240 1 159304102 missense variant A/G;T snv 6.6E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs4958881
rs4958881
7 0.827 0.280 5 151070675 intron variant T/C snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs10127939
rs10127939
5 0.851 0.160 1 161548543 missense variant A/C;T snv 4.3E-02; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1364989
rs1364989
2 0.925 0.160 4 54145602 intron variant T/C snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs2647012
rs2647012
7 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs274068
rs274068
2 0.925 0.160 16 24887651 intron variant C/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs601162
rs601162
2 0.925 0.160 9 29632144 upstream gene variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs7773456
rs7773456
2 0.925 0.160 6 19823007 intron variant T/G snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs7834765
rs7834765
2 0.925 0.160 8 121263666 regulatory region variant G/T snv 0.32 0.700 1.000 1 2014 2014
dbSNP: rs8012283
rs8012283
NIN
2 0.925 0.160 14 50767442 intron variant A/G snv 0.23 0.700 1.000 1 2014 2014
dbSNP: rs11893826
rs11893826
2 0.925 0.160 2 40337507 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1391441
rs1391441
11 0.763 0.240 4 105207603 intron variant G/A snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs17008504
rs17008504
1 1.000 0.160 4 124718662 intergenic variant T/A snv 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs172378
rs172378
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2015 2015
dbSNP: rs2271100
rs2271100
AGA
1 1.000 0.160 4 177438525 intron variant T/C snv 0.19 0.010 1.000 1 2015 2015