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: rs310746
rs310746
1 1.000 0.040 3 12218116 intergenic variant C/T snv 0.93 0.010 1.000 1 2014 2014
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.760 0.857 7 2006 2019
dbSNP: rs10744676
rs10744676
2 0.925 0.080 12 5043783 upstream gene variant C/T snv 0.88 0.010 1.000 1 2010 2010
dbSNP: rs6659932
rs6659932
5 0.827 0.240 1 67336688 intron variant A/C snv 0.81 0.700 1.000 1 2019 2019
dbSNP: rs344781
rs344781
7 0.807 0.200 19 43670636 upstream gene variant C/T snv 0.80 0.010 1.000 1 2011 2011
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs661968
rs661968
1 1.000 0.040 15 33968868 5 prime UTR variant C/T snv 0.80 0.700 1.000 1 2013 2013
dbSNP: rs1857066
rs1857066
1 1.000 0.040 1 173363490 non coding transcript exon variant A/C snv 0.79 0.800 1.000 2 2013 2019
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.870 0.778 9 2009 2017
dbSNP: rs1005714
rs1005714
1 1.000 0.040 17 75228544 5 prime UTR variant G/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs959173
rs959173
2 0.925 0.120 7 116542000 intron variant C/T snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs2904880
rs2904880
5 1.000 0.040 16 28933075 missense variant C/G snv 0.72 0.76 0.010 1.000 1 2012 2012
dbSNP: rs802791
rs802791
4 0.851 0.160 6 106121395 intron variant T/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs1521
rs1521
3 0.882 0.320 6 31382927 upstream gene variant C/T snv 0.74 0.700 1.000 1 2010 2010
dbSNP: rs230534
rs230534
3 0.882 0.120 4 102527884 intron variant T/C snv 0.73 0.700 1.000 1 2019 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2014 2014
dbSNP: rs7172677
rs7172677
2 0.925 0.080 15 75132252 intergenic variant A/C snv 0.71 0.800 1.000 1 2013 2013
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2018 2018
dbSNP: rs10174238
rs10174238
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 2 2018 2019
dbSNP: rs2844494
rs2844494
2 0.925 0.160 6 31515638 upstream gene variant C/A snv 0.70 0.700 1.000 1 2010 2010
dbSNP: rs2516398
rs2516398
3 0.882 0.200 6 31513749 upstream gene variant G/T snv 0.70 0.700 1.000 1 2010 2010
dbSNP: rs4134466
rs4134466
1 1.000 0.040 6 106129493 intron variant A/G snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs4939364
rs4939364
1 1.000 0.040 11 60464852 intron variant A/G snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs4076852
rs4076852
PXK
1 1.000 0.040 3 58389559 intron variant G/A snv 0.65 0.700 1.000 1 2019 2019