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: rs771184127
rs771184127
9 0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05 0.050 1.000 5 2004 2017
dbSNP: rs1248696
rs1248696
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.040 0.750 4 2006 2016
dbSNP: rs1384936174
rs1384936174
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.040 0.750 4 2008 2019
dbSNP: rs1728785
rs1728785
2 0.925 0.120 16 68557327 intron variant A/C;T snv 0.77; 7.8E-06 0.810 1.000 4 2009 2017
dbSNP: rs2066842
rs2066842
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.040 0.750 4 2002 2014
dbSNP: rs2395185
rs2395185
17 0.724 0.360 6 32465390 intron variant G/T snv 0.29 0.810 1.000 4 2009 2012
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.730 1.000 4 2011 2016
dbSNP: rs254560
rs254560
2 1.000 0.040 5 135107916 intron variant G/A snv 0.32 0.800 1.000 4 2011 2017
dbSNP: rs2816958
rs2816958
6 0.827 0.120 1 200132792 intron variant A/G snv 0.84 0.800 1.000 4 2012 2017
dbSNP: rs2836878
rs2836878
7 0.851 0.200 21 39093608 intergenic variant G/A snv 0.23 0.800 1.000 4 2010 2017
dbSNP: rs3749171
rs3749171
9 0.807 0.120 2 240630275 missense variant C/T snv 0.16; 9.4E-06 0.19 0.710 1.000 4 2015 2019
dbSNP: rs3806308
rs3806308
5 0.827 0.120 1 19816373 intron variant C/T snv 0.36 0.800 1.000 4 2009 2016
dbSNP: rs3810936
rs3810936
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.040 1.000 4 2014 2018
dbSNP: rs7517847
rs7517847
19 0.689 0.600 1 67215986 intron variant T/G snv 0.37 0.730 1.000 4 2008 2016
dbSNP: rs7554511
rs7554511
3 0.925 0.040 1 200908434 intron variant C/A snv 0.22 0.800 1.000 4 2009 2017
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.040 0.750 4 2008 2015
dbSNP: rs7608910
rs7608910
6 0.827 0.120 2 60977721 intron variant A/G snv 0.37 0.800 1.000 4 2011 2017
dbSNP: rs7848647
rs7848647
13 0.732 0.320 9 114806766 upstream gene variant T/C snv 0.74 0.730 1.000 4 2014 2018
dbSNP: rs941823
rs941823
6 0.827 0.120 13 40439840 intron variant T/C snv 0.77 0.800 1.000 4 2011 2017
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2007 2017
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.030 1.000 3 2014 2018
dbSNP: rs10781499
rs10781499
3 0.925 0.040 9 136371953 synonymous variant G/A snv 0.41 0.38 0.800 1.000 3 2011 2017
dbSNP: rs10883365
rs10883365
3 0.882 0.080 10 99528007 non coding transcript exon variant G/A snv 0.52 0.030 1.000 3 2010 2014
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.820 1.000 3 2009 2020
dbSNP: rs11150589
rs11150589
2 1.000 0.040 16 30471173 upstream gene variant T/A;C;G snv 0.800 1.000 3 2012 2017