Source: ALL
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: rs4656461
rs4656461
7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.810 1.000 2 2011 2012
dbSNP: rs1013278
rs1013278
1 1.000 0.040 7 117963766 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1015213
rs1015213
6 0.851 0.040 8 51974981 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10152898
rs10152898
1 1.000 0.040 15 73962780 intergenic variant G/A;T snv 0.700 1.000 1 2007 2007
dbSNP: rs10281637
rs10281637
2 1.000 0.040 7 116511284 downstream gene variant T/C snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs10483727
rs10483727
4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs17752199
rs17752199
3 0.925 0.040 6 51542050 upstream gene variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs190298731
rs190298731
1 1.000 0.040 6 148738155 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs2022945
rs2022945
2 1.000 0.040 8 107238911 intergenic variant A/G snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs2024211
rs2024211
1 1.000 0.040 7 116512971 downstream gene variant A/C snv 0.27 0.700 1.000 1 2018 2018
dbSNP: rs2188836
rs2188836
2 1.000 0.040 7 117995328 downstream gene variant C/T snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs2935057
rs2935057
1 1.000 0.040 6 170139691 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs3116139
rs3116139
1 1.000 0.040 19 51375780 upstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs3858145
rs3858145
3 0.882 0.040 10 68252081 regulatory region variant A/G snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs504022
rs504022
1 1.000 0.040 21 43311258 regulatory region variant T/G snv 0.91 0.700 1.000 1 2011 2011
dbSNP: rs547984
rs547984
3 0.882 0.040 1 237933586 intergenic variant A/C snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs56233426
rs56233426
1 1.000 0.040 3 186411027 intergenic variant A/G snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs61861119
rs61861119
1 1.000 0.040 10 93182666 intergenic variant A/G snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs6478746
rs6478746
3 0.925 0.040 9 126605119 intron variant G/A snv 0.72 0.700 1.000 1 2018 2018
dbSNP: rs7081455
rs7081455
4 0.851 0.040 10 20349956 upstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs8141433
rs8141433
1 1.000 0.040 22 19866483 intergenic variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs9853115
rs9853115
3 0.925 0.040 3 186413811 intergenic variant T/A;G snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs7034696
rs7034696
1 1.000 0.040 9 18804132 intron variant C/T snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2002 2002
dbSNP: rs28500712
rs28500712
2 1.000 0.040 4 7894486 intron variant A/C;G snv 0.700 1.000 1 2018 2018