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: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2011 2011
dbSNP: rs2275725
rs2275725
1 1.000 0.080 10 133275531 missense variant A/G snv 0.89 0.90 0.010 1.000 1 2011 2011
dbSNP: rs6809699
rs6809699
2 1.000 0.080 3 151338810 synonymous variant A/C snv 0.87 0.88 0.010 < 0.001 1 2008 2008
dbSNP: rs670950
rs670950
1 1.000 0.080 19 43777410 intron variant T/C snv 0.87 0.010 1.000 1 2009 2009
dbSNP: rs824400
rs824400
1 1.000 0.080 16 83956331 intron variant C/G snv 0.85 0.700 1.000 1 2011 2011
dbSNP: rs2302685
rs2302685
5 0.827 0.240 12 12148964 missense variant C/T snv 0.85 0.84 0.010 1.000 1 2014 2014
dbSNP: rs2995300
rs2995300
1 1.000 0.080 10 133263019 3 prime UTR variant C/A snv 0.87 0.83 0.010 1.000 1 2011 2011
dbSNP: rs1613662
rs1613662
8 0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83 0.010 1.000 1 2001 2001
dbSNP: rs562556
rs562556
8 0.827 0.280 1 55058564 missense variant G/A snv 0.86 0.83 0.010 1.000 1 2019 2019
dbSNP: rs10733113
rs10733113
3 0.882 0.160 1 247459055 upstream gene variant A/G snv 0.81 0.010 1.000 1 2016 2016
dbSNP: rs2227564
rs2227564
15 0.763 0.320 10 73913343 missense variant T/C snv 0.75 0.81 0.010 1.000 1 2010 2010
dbSNP: rs579459
rs579459
28 0.752 0.320 9 133278724 upstream gene variant C/T snv 0.81 0.010 < 0.001 1 2014 2014
dbSNP: rs2073746
rs2073746
1 1.000 0.080 22 19991035 intron variant T/C snv 0.80 0.700 1.000 1 2011 2011
dbSNP: rs2057482
rs2057482
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2019 2019
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2019 2019
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.040 1.000 4 2003 2011
dbSNP: rs1042034
rs1042034
15 0.851 0.240 2 21002409 missense variant C/T snv 0.70 0.78 0.010 1.000 1 2004 2004
dbSNP: rs14309
rs14309
1 1.000 0.080 17 7015774 splice region variant T/C snv 0.80 0.76 0.010 1.000 1 2018 2018
dbSNP: rs1319501
rs1319501
4 0.882 0.120 7 106285307 intron variant C/A;T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs6003
rs6003
5 0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76 0.020 1.000 2 2007 2015
dbSNP: rs2569512
rs2569512
5 0.925 0.080 19 10679486 intron variant T/C snv 0.76 0.740 1.000 4 2011 2011
dbSNP: rs646776
rs646776
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.810 1.000 2 2009 2012
dbSNP: rs1234313
rs1234313
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 < 0.001 1 2013 2013
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 < 0.001 1 2016 2016