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: rs10483639
rs10483639
3 1.000 0.040 14 54839739 downstream gene variant G/C snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs12633508
rs12633508
1 3 88765985 intergenic variant T/C snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs13093031
rs13093031
2 1.000 0.120 3 88809891 intergenic variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs13361160
rs13361160
2 1.000 0.040 5 10169711 downstream gene variant T/C snv 0.34 0.800 1.000 1 2013 2013
dbSNP: rs1571138
rs1571138
1 1 46429969 upstream gene variant A/G snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs17122021
rs17122021
1 11 118274971 regulatory region variant C/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs17197936
rs17197936
3 0.925 0.040 13 37601702 upstream gene variant T/C snv 5.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs17289394
rs17289394
1 13 46899085 upstream gene variant G/A snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs1972597
rs1972597
2 1.000 0.040 17 77598082 intron variant T/C snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs2383515
rs2383515
1 1 186683820 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3862188
rs3862188
2 1.000 0.040 1 247702471 intron variant T/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs398655
rs398655
1 13 33013514 upstream gene variant A/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs4660928
rs4660928
1 1 46420268 TF binding site variant A/C snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs6961071
rs6961071
2 1.000 0.120 7 156182007 downstream gene variant A/G;T snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs7335912
rs7335912
1 13 95015426 upstream gene variant A/G snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs73633565
rs73633565
1 X 13459192 intergenic variant A/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs8007267
rs8007267
6 0.882 0.200 14 54912273 intergenic variant C/T snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs943552
rs943552
2 1 156885826 downstream gene variant C/T snv 9.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.040 1.000 4 2013 2019
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2010 2017
dbSNP: rs2756109
rs2756109
1 10 99798989 intron variant G/T snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs4584690
rs4584690
1 13 95027878 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs9524885
rs9524885
2 13 95283335 intron variant T/C snv 0.63 0.010 1.000 1 2012 2012
dbSNP: rs4512126
rs4512126
1 5 149166179 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs1815739
rs1815739
17 0.763 0.240 11 66560624 stop gained C/T snv 0.37 0.010 1.000 1 2019 2019