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: rs1992045
rs1992045
2 8 57928365 intron variant C/T snv 0.14 0.800 1.000 1 2010 2010
dbSNP: rs2018368
rs2018368
2 11 10718819 intergenic variant C/G snv 0.59 0.800 1.000 1 2010 2010
dbSNP: rs2044117
rs2044117
2 13 101055958 intron variant G/A snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs2155907
rs2155907
2 11 98223945 intergenic variant C/T snv 0.38 0.700 1.000 1 2010 2010
dbSNP: rs2312147
rs2312147
2 1.000 0.040 2 57995793 intron variant T/C snv 0.70 0.700 1.000 1 2014 2014
dbSNP: rs245914
rs245914
2 1.000 0.040 7 29178543 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2509843
rs2509843
2 11 98254676 intergenic variant A/C;G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs2709722
rs2709722
2 1.000 0.040 7 20828189 downstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2841307
rs2841307
2 6 100308811 intergenic variant C/T snv 0.20 0.800 1.000 1 2010 2010
dbSNP: rs3752088
rs3752088
2 1.000 0.040 18 50714891 intron variant C/A snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs3761554
rs3761554
2 1.000 0.040 X 123183391 upstream gene variant T/C snv 0.21 0.010 < 0.001 1 2018 2018
dbSNP: rs3794899
rs3794899
2 1.000 0.040 18 50719733 intron variant C/T snv 0.81 0.010 1.000 1 2015 2015
dbSNP: rs3892158
rs3892158
2 1.000 0.040 18 50674143 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs4813376
rs4813376
2 20 19870811 intron variant T/G snv 0.86 0.700 1.000 1 2010 2010
dbSNP: rs4996815
rs4996815
2 13 105999312 intron variant G/T snv 0.61 0.800 1.000 1 2010 2010
dbSNP: rs502434
rs502434
2 1.000 0.040 X 123403426 synonymous variant T/C snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs5905512
rs5905512
2 1.000 0.040 X 43867148 intron variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs6024905
rs6024905
BPI
2 20 38329435 intron variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs6046396
rs6046396
2 20 19871859 non coding transcript exon variant G/A snv 0.68 0.800 1.000 1 2010 2010
dbSNP: rs6081541
rs6081541
2 1.000 0.040 20 19232246 intron variant A/G snv 0.20 0.700 1.000 1 2013 2013
dbSNP: rs6444931
rs6444931
2 3 170445686 intron variant G/A snv 0.85 0.800 1.000 1 2010 2010
dbSNP: rs6589386
rs6589386
2 1.000 0.040 11 113573031 intergenic variant C/T snv 0.36 0.700 1.000 1 2014 2014
dbSNP: rs6627057
rs6627057
2 X 145059799 downstream gene variant T/G snv 0.16 0.800 1.000 1 2010 2010
dbSNP: rs6913660
rs6913660
2 1.000 0.040 6 27123646 upstream gene variant C/A snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs6932590
rs6932590
2 1.000 0.040 6 27281152 downstream gene variant T/C snv 0.26 0.700 1.000 1 2014 2014