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: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.020 1.000 2 2011 2016
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.020 1.000 2 2011 2014
dbSNP: rs2981582
rs2981582
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.020 1.000 2 2011 2013
dbSNP: rs700518
rs700518
13 0.732 0.320 15 51236915 synonymous variant T/C snv 0.43 0.40 0.020 1.000 2 2013 2015
dbSNP: rs1011970
rs1011970
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs10771399
rs10771399
5 0.827 0.080 12 28002147 intergenic variant A/G snv 8.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs10822013
rs10822013
4 0.851 0.080 10 62492218 intron variant C/T snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs10995190
rs10995190
4 0.882 0.080 10 62518923 intron variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1292011
rs1292011
4 0.851 0.080 12 115398717 regulatory region variant A/G snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs12998806
rs12998806
2 0.925 2 217029040 intergenic variant G/A snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs13074711
rs13074711
1 1.000 3 172550013 regulatory region variant T/C snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs13267382
rs13267382
3 0.882 0.080 8 116197325 intron variant A/G snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs13387042
rs13387042
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs1432679
rs1432679
4 0.851 0.080 5 158817075 intron variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs16917302
rs16917302
5 0.851 0.080 10 62501439 intron variant A/C snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs190843378
rs190843378
2 0.925 2 218841159 upstream gene variant C/T snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs2016347
rs2016347
9 0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2059614
rs2059614
1 1.000 11 125389528 intron variant A/G snv 5.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs2209314
rs2209314
2 0.925 0.040 20 54162422 intron variant T/C snv 0.22 0.010 < 0.001 1 2012 2012
dbSNP: rs2236722
rs2236722
4 0.851 0.120 15 51242798 missense variant A/G snv 3.4E-03 9.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs2284378
rs2284378
4 0.851 0.080 20 34000289 intron variant T/C;G snv 0.010 < 0.001 1 2012 2012
dbSNP: rs2363956
rs2363956
8 0.776 0.160 19 17283315 missense variant T/G snv 0.48 0.50 0.010 1.000 1 2010 2010
dbSNP: rs250108
rs250108
2 0.925 5 142614908 intron variant G/A snv 0.24 0.010 1.000 1 2013 2013