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 1.000 15 2007 2020
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.850 1.000 9 2009 2018
dbSNP: rs6426833
rs6426833
6 0.827 0.120 1 19845367 TF binding site variant G/A snv 0.52 0.810 1.000 9 2009 2017
dbSNP: rs17085007
rs17085007
7 0.827 0.120 13 26957130 regulatory region variant T/C snv 0.16 0.820 1.000 8 2009 2017
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.080 1.000 8 2005 2017
dbSNP: rs3197999
rs3197999
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.820 1.000 7 2008 2017
dbSNP: rs4728142
rs4728142
18 0.732 0.320 7 128933913 upstream gene variant G/A snv 0.38 0.820 1.000 7 2011 2017
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.830 1.000 6 2010 2016
dbSNP: rs2542151
rs2542151
11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.060 1.000 6 2012 2016
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.050 1.000 5 2009 2018
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.050 1.000 5 2011 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 1999 2016
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.050 1.000 5 2008 2014
dbSNP: rs6017342
rs6017342
3 0.925 0.120 20 44436388 non coding transcript exon variant A/C snv 0.62 0.810 1.000 5 2009 2017
dbSNP: rs6478108
rs6478108
10 0.763 0.200 9 114796423 intron variant C/T snv 0.73 0.050 1.000 5 2014 2018
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: 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: 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