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: rs7854303
rs7854303
1 1.000 0.200 9 5557672 missense variant T/C snv 1.00 1.00 0.010 1.000 1 2011 2011
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2007 2017
dbSNP: rs9260997
rs9260997
1 1.000 0.200 6 29995539 upstream gene variant T/C snv 0.90 0.010 < 0.001 1 2015 2015
dbSNP: rs4857037
rs4857037
1 1.000 0.200 3 93908968 intron variant G/A snv 0.89 0.010 1.000 1 2016 2016
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2016 2016
dbSNP: rs855873
rs855873
1 1.000 0.200 1 159077922 intron variant A/G snv 0.84 0.010 1.000 1 2015 2015
dbSNP: rs2542151
rs2542151
11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs3093953
rs3093953
1 1.000 0.200 6 31506911 intron variant T/G snv 0.80 0.700 1.000 1 2012 2012
dbSNP: rs9517668
rs9517668
1 1.000 0.200 13 99271586 intron variant T/A snv 0.80 0.010 1.000 1 2012 2012
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.030 0.667 3 2012 2017
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs947474
rs947474
5 0.827 0.440 10 6348488 intron variant G/A snv 0.79 0.010 1.000 1 2016 2016
dbSNP: rs2058660
rs2058660
4 0.882 0.280 2 102437989 intron variant G/A snv 0.78 0.010 1.000 1 2016 2016
dbSNP: rs1234313
rs1234313
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs2474619
rs2474619
3 0.882 0.360 6 90170316 intron variant C/A snv 0.72 0.010 < 0.001 1 2015 2015
dbSNP: rs8193036
rs8193036
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 1.000 1 2012 2012
dbSNP: rs1462891
rs1462891
1 1.000 0.200 8 31973417 intron variant T/C snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs1518111
rs1518111
9 0.790 0.360 1 206771300 intron variant T/C snv 0.71 0.830 1.000 4 2010 2015
dbSNP: rs27044
rs27044
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.020 1.000 2 2019 2020
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.030 1.000 3 2014 2019
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.830 0.800 5 2010 2017
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs224127
rs224127
1 1.000 0.200 10 62701513 intron variant A/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2004 2004
dbSNP: rs9517723
rs9517723
2 0.925 0.200 13 99432425 non coding transcript exon variant T/C snv 0.65 0.010 1.000 1 2017 2017