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: rs4919862
rs4919862
BSG
1 1.000 0.120 19 582253 intron variant T/C snv 0.82 0.010 1.000 1 2017 2017
dbSNP: rs710968
rs710968
2 0.925 0.120 7 74083398 intron variant A/G snv 0.75 0.010 1.000 1 2008 2008
dbSNP: rs1537378
rs1537378
4 0.882 0.160 9 22061615 intron variant A/G snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 1.000 2 2015 2019
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 2016 2016
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.020 1.000 2 2008 2017
dbSNP: rs978458
rs978458
2 0.925 0.120 12 102408461 intron variant T/C snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs1044009
rs1044009
1 1.000 0.120 19 15160960 missense variant G/A snv 0.71 0.69 0.010 1.000 1 2016 2016
dbSNP: rs2271875
rs2271875
1 1.000 0.120 19 3626924 upstream gene variant T/C snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs4523
rs4523
8 0.776 0.280 19 3595796 missense variant A/G snv 0.56 0.66 0.020 1.000 2 2013 2015
dbSNP: rs2383207
rs2383207
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs12659
rs12659
2 0.925 0.120 21 45531642 synonymous variant A/G snv 0.58 0.57 0.010 1.000 1 2015 2015
dbSNP: rs4245191
rs4245191
2 0.925 0.200 11 119182117 missense variant C/A snv 0.56 0.57 0.010 1.000 1 2017 2017
dbSNP: rs699473
rs699473
5 0.827 0.160 4 24795181 intron variant C/T snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs2227631
rs2227631
13 0.742 0.200 7 101126257 upstream gene variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs10507391
rs10507391
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 < 0.001 1 2015 2015
dbSNP: rs4147064
rs4147064
2 1.000 0.120 13 30745981 intron variant T/C snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs4073259
rs4073259
4 0.882 0.160 13 30732134 intron variant G/A snv 0.49 0.010 1.000 1 2012 2012
dbSNP: rs7291467
rs7291467
4 0.851 0.160 22 37576621 intron variant G/A snv 0.49 0.010 1.000 1 2008 2008
dbSNP: rs3861950
rs3861950
7 0.827 0.160 1 173187153 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs4769055
rs4769055
1 1.000 0.120 13 30735693 intron variant C/A snv 0.41 0.47 0.010 1.000 1 2008 2008
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 < 0.001 1 2006 2006
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019