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: rs4624820
rs4624820
5 0.851 0.240 5 142302223 regulatory region variant G/A snv 0.55 0.810 1.000 6 2009 2017
dbSNP: rs10510452
rs10510452
2 1.000 0.120 3 16583541 downstream gene variant A/G snv 0.22 0.800 1.000 4 2013 2017
dbSNP: rs2195987
rs2195987
1 1.000 0.120 19 23966743 intergenic variant C/G;T snv 0.700 1.000 3 2015 2017
dbSNP: rs8046148
rs8046148
2 1.000 0.120 16 50109033 intron variant A/G;T snv 0.800 1.000 3 2013 2017
dbSNP: rs1508595
rs1508595
5 0.851 0.240 12 88592239 intron variant G/A;T snv 0.700 1.000 2 2013 2013
dbSNP: rs1510272
rs1510272
1 1.000 0.120 3 156582935 regulatory region variant C/T snv 0.25 0.700 1.000 2 2017 2017
dbSNP: rs4635969
rs4635969
7 0.827 0.160 5 1308437 downstream gene variant G/A;T snv 0.800 1.000 2 2013 2017
dbSNP: rs10146204
rs10146204
2 1.000 0.120 14 64352051 non coding transcript exon variant G/A snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs11202586
rs11202586
1 1.000 0.120 10 87852267 intergenic variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs11769858
rs11769858
1 1.000 0.120 7 158708801 upstream gene variant T/C snv 0.60 0.700 1.000 1 2017 2017
dbSNP: rs12912292
rs12912292
1 1.000 0.120 15 55746509 upstream gene variant G/A snv 0.36 0.700 1.000 1 2017 2017
dbSNP: rs17198432
rs17198432
1 1.000 0.120 2 175524333 intergenic variant C/A snv 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs34601376
rs34601376
1 1.000 0.120 19 23868026 intron variant A/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs4324715
rs4324715
2 0.925 0.160 5 142289942 regulatory region variant C/T snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs4599029
rs4599029
1 1.000 0.120 19 53781435 intergenic variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4699052
rs4699052
3 0.925 0.200 4 103216633 intergenic variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs739525
rs739525
1 1.000 0.120 22 20978152 intron variant T/C snv 0.50 0.700 1.000 1 2017 2017
dbSNP: rs2900333
rs2900333
6 0.882 0.200 12 14500933 3 prime UTR variant C/A;G;T snv 0.800 1.000 3 2013 2017
dbSNP: rs12228415
rs12228415
1 1.000 0.120 12 14367767 intron variant A/G snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs1009647
rs1009647
2 1.000 0.120 14 55413329 upstream gene variant G/A snv 0.24 0.700 1.000 1 2017 2017
dbSNP: rs210138
rs210138
5 0.851 0.240 6 33574761 intron variant A/G snv 0.19 0.800 1.000 5 2009 2017
dbSNP: rs4561483
rs4561483
1 1.000 0.120 16 11826180 intron variant A/G;T snv 0.710 1.000 3 2015 2017
dbSNP: rs7404843
rs7404843
1 1.000 0.120 16 15436851 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020