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: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.060 1.000 6 2009 2017
dbSNP: rs11030101
rs11030101
10 0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36 0.040 1.000 4 2009 2018
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.030 1.000 3 2009 2016
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.030 1.000 3 2009 2016
dbSNP: rs1558477
rs1558477
1 1.000 0.040 7 31115733 downstream gene variant T/C snv 0.56 0.800 1.000 2 2009 2011
dbSNP: rs17110747
rs17110747
4 0.882 0.120 12 72032174 3 prime UTR variant G/A snv 0.12 0.020 1.000 2 2009 2012
dbSNP: rs2715148
rs2715148
1 1.000 0.040 7 82820719 3 prime UTR variant A/C snv 0.57 0.800 1.000 2 2009 2011
dbSNP: rs10494994
rs10494994
1 1.000 0.040 1 215188864 intron variant G/A snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs10835210
rs10835210
4 0.882 0.040 11 27674363 intron variant C/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs11568817
rs11568817
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2009 2009
dbSNP: rs11583745
rs11583745
1 1.000 0.040 1 215216266 intron variant T/C snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs12273539
rs12273539
2 0.925 0.120 11 27661764 intron variant C/T snv 0.12 0.010 1.000 1 2009 2009
dbSNP: rs130058
rs130058
8 0.790 0.120 6 77463564 5 prime UTR variant T/A;G snv 0.010 1.000 1 2009 2009
dbSNP: rs1824024
rs1824024
4 0.851 0.160 7 136958947 intron variant C/A snv 0.65 0.010 1.000 1 2009 2009
dbSNP: rs2030324
rs2030324
6 0.827 0.120 11 27705368 intron variant A/G snv 0.49 0.010 1.000 1 2009 2009
dbSNP: rs2061174
rs2061174
3 0.882 0.080 7 136976653 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs2073376
rs2073376
1 1.000 0.040 21 46431839 missense variant A/G snv 0.63 0.67 0.010 1.000 1 2009 2009
dbSNP: rs2073380
rs2073380
2 0.925 0.040 21 46443844 missense variant A/C snv 0.22 0.18 0.010 1.000 1 2009 2009
dbSNP: rs2522840
rs2522840
1 1.000 0.040 7 82849099 intron variant T/G snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs324650
rs324650
5 0.827 0.080 7 137008914 intron variant T/A snv 0.55 0.010 1.000 1 2009 2009
dbSNP: rs3736544
rs3736544
4 0.882 0.160 4 55443825 synonymous variant A/G snv 0.70 0.69 0.010 1.000 1 2009 2009
dbSNP: rs3788265
rs3788265
1 1.000 0.040 21 46413875 intron variant G/T snv 0.17 0.010 1.000 1 2009 2009
dbSNP: rs4292
rs4292
ACE
1 1.000 0.040 17 63476980 upstream gene variant C/T snv 0.71 0.010 1.000 1 2009 2009
dbSNP: rs472952
rs472952
2 0.925 0.040 1 66335081 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs4839627
rs4839627
1 1.000 0.040 3 143367401 intron variant A/G;T snv 0.700 1.000 1 2009 2009