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: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2010 2010
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10911268
rs10911268
1 1.000 0.040 1 183153583 intergenic variant C/A snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs11118336
rs11118336
1 1.000 0.040 1 219547941 intergenic variant C/T snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs1159268
rs1159268
1 1.000 0.040 1 218671564 regulatory region variant G/A snv 0.32 0.700 1.000 1 2014 2014
dbSNP: rs1256580
rs1256580
1 1.000 0.040 1 219026038 intron variant G/C snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs6428829
rs6428829
2 0.925 0.040 1 119512118 intron variant A/G snv 0.78 0.010 1.000 1 2013 2013
dbSNP: rs6684868
rs6684868
1 1.000 0.040 1 218674648 TF binding site variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs7531806
rs7531806
1 1.000 0.040 1 169681903 intron variant G/A snv 0.61 0.700 1.000 1 2014 2014
dbSNP: rs788790
rs788790
1 1.000 0.040 1 202320478 downstream gene variant C/A snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs1092479
rs1092479
1 1.000 0.040 2 121011861 intergenic variant G/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs121908120
rs121908120
19 0.701 0.280 2 218890289 missense variant T/A snv 1.4E-02 1.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs2901000
rs2901000
1 1.000 0.040 2 60274081 intergenic variant A/G snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs72966077
rs72966077
1 1.000 0.040 2 218894507 intron variant C/T snv 3.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2014 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2014 2018
dbSNP: rs28405582
rs28405582
1 1.000 0.040 3 23863271 intron variant T/C snv 4.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs75430906
rs75430906
1 1.000 0.040 3 20676437 intron variant G/A snv 1.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs4487353
rs4487353
1 1.000 0.040 4 123332634 intergenic variant G/A snv 0.53 0.700 1.000 1 2018 2018
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs158639
rs158639
1 1.000 0.040 5 56315883 intron variant G/A snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs38055
rs38055
1 1.000 0.040 5 53264814 intergenic variant A/G snv 0.75 0.700 1.000 1 2014 2014
dbSNP: rs629725
rs629725
1 1.000 0.040 5 53335237 TF binding site variant T/C snv 0.74 0.700 1.000 1 2018 2018
dbSNP: rs7799039
rs7799039
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs7809981
rs7809981
1 1.000 0.040 7 40834777 intron variant G/T snv 0.24 0.700 1.000 1 2018 2018