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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.900 0.857 14 2008 2018
dbSNP: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.100 0.818 11 2007 2018
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.860 0.900 10 2008 2015
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.100 0.900 10 2007 2018
dbSNP: rs610604
rs610604
5 0.827 0.240 6 137878280 intron variant G/T snv 0.58 0.860 1.000 10 2009 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 0.875 8 2009 2018
dbSNP: rs17728338
rs17728338
4 0.851 0.160 5 151098757 downstream gene variant G/A snv 7.1E-02 0.820 1.000 7 2009 2015
dbSNP: rs33980500
rs33980500
14 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.850 1.000 7 2010 2019
dbSNP: rs11652075
rs11652075
3 0.882 0.040 17 80205094 missense variant C/T snv 0.41 0.40 0.840 1.000 5 2012 2016
dbSNP: rs12191877
rs12191877
7 0.851 0.120 6 31285148 intron variant C/T snv 0.12 0.830 1.000 5 2009 2015
dbSNP: rs2066808
rs2066808
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.810 1.000 5 2009 2015
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.830 1.000 5 2009 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.740 0.800 5 2008 2016
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2014 2019
dbSNP: rs4795067
rs4795067
3 0.882 0.280 17 27779649 intron variant A/G snv 0.31 0.820 1.000 5 2010 2015
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.050 1.000 5 2015 2019
dbSNP: rs10484554
rs10484554
11 0.807 0.200 6 31306778 intron variant C/T snv 0.12 0.810 1.000 4 2008 2018
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.810 1.000 4 2010 2018
dbSNP: rs4112788
rs4112788
4 0.851 0.120 1 152578800 downstream gene variant A/G;T snv 0.820 1.000 4 2009 2011
dbSNP: rs495337
rs495337
2 0.925 0.120 20 49905793 synonymous variant G/A snv 0.44 0.35 0.810 1.000 4 2008 2015
dbSNP: rs7530511
rs7530511
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.040 1.000 4 2008 2014
dbSNP: rs8016947
rs8016947
2 0.925 0.080 14 35363460 intron variant T/G snv 0.60 0.810 1.000 4 2010 2015
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.040 1.000 4 2014 2020
dbSNP: rs11795343
rs11795343
1 1.000 0.040 9 32523739 intron variant T/C snv 0.41 0.800 1.000 3 2012 2015
dbSNP: rs12580100
rs12580100
1 1.000 0.040 12 56045425 upstream gene variant A/G snv 0.14 0.800 1.000 3 2010 2015