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: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.100 0.917 12 2016 2019
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.790 1.000 10 2011 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.080 0.875 8 2010 2014
dbSNP: rs2854116
rs2854116
7 0.807 0.200 11 116829453 upstream gene variant C/T snv 0.51 0.060 1.000 6 2010 2018
dbSNP: rs2854117
rs2854117
6 0.851 0.200 11 116829426 upstream gene variant T/A;C snv 0.060 1.000 6 2010 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 0.600 5 2013 2016
dbSNP: rs1420472625
rs1420472625
2 0.925 0.040 19 54178800 missense variant G/C snv 0.040 1.000 4 2016 2018
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.040 1.000 4 2015 2019
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.040 1.000 4 2015 2020
dbSNP: rs2143571
rs2143571
5 0.827 0.080 22 43995806 intron variant G/A snv 0.25 0.800 1.000 3 2012 2018
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.810 1.000 3 2013 2018
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.030 1.000 3 2016 2019
dbSNP: rs12137855
rs12137855
3 0.882 0.040 1 219275036 downstream gene variant C/T snv 0.19 0.020 1.000 2 2014 2019
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.020 1.000 2 2018 2019
dbSNP: rs17321515
rs17321515
16 0.776 0.200 8 125474167 intron variant A/G snv 0.49 0.020 1.000 2 2019 2019
dbSNP: rs1800591
rs1800591
3 0.882 0.120 4 99574331 intron variant G/T snv 0.26 0.020 1.000 2 2014 2014
dbSNP: rs2073080
rs2073080
2 0.925 0.040 22 43998522 intron variant C/T snv 0.20 0.810 1.000 2 2012 2018
dbSNP: rs2073082
rs2073082
1 1.000 0.040 22 43964127 intron variant G/A snv 0.18 0.700 1.000 2 2012 2013
dbSNP: rs2276736
rs2276736
1 1.000 0.040 3 148708086 intron variant A/G;T snv 0.020 1.000 2 2009 2013
dbSNP: rs2645424
rs2645424
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.820 1.000 2 2010 2014
dbSNP: rs2954021
rs2954021
15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.020 1.000 2 2014 2019
dbSNP: rs343064
rs343064
2 0.925 0.080 7 35515178 upstream gene variant C/G;T snv 0.810 1.000 2 2010 2015
dbSNP: rs3480
rs3480
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.020 1.000 2 2017 2019
dbSNP: rs3772622
rs3772622
4 0.851 0.080 3 148717966 intron variant T/A;C snv 0.020 1.000 2 2013 2016
dbSNP: rs3772627
rs3772627
1 1.000 0.040 3 148712467 intron variant A/G snv 0.44 0.020 1.000 2 2009 2013