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: rs111365677
rs111365677
3 0.925 0.040 1 99463578 upstream gene variant T/C snv 2.3E-03 0.700 1.000 1 2016 2016
dbSNP: rs11209175
rs11209175
2 1.000 0.040 1 67909145 intron variant C/T snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs116362708
rs116362708
2 1.000 0.040 1 75464629 intron variant G/A snv 2.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs12030991
rs12030991
2 1.000 0.040 1 106683737 intergenic variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12068879
rs12068879
2 1.000 0.040 1 14959860 intron variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs12137398
rs12137398
2 1.000 0.040 1 7730488 intron variant C/T snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs12137936
rs12137936
2 1.000 0.040 1 72254674 intron variant C/G snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs17432675
rs17432675
2 1.000 0.040 1 201918593 intron variant T/C snv 0.32 0.700 1.000 1 2018 2018
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 1999 1999
dbSNP: rs2271933
rs2271933
9 0.807 0.080 1 31626924 missense variant A/G snv 0.56 0.50 0.010 1.000 1 2019 2019
dbSNP: rs228682
rs228682
2 1 7796286 intron variant T/C snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs2376803
rs2376803
1 1 2036515 intergenic variant C/T snv 0.71 0.010 1.000 1 2010 2010
dbSNP: rs2376805
rs2376805
1 1 2024923 non coding transcript exon variant G/A snv 0.80 0.81 0.010 1.000 1 2010 2010
dbSNP: rs2640909
rs2640909
4 1 7830057 missense variant T/C snv 0.14 0.23 0.010 1.000 1 2018 2018
dbSNP: rs28536160
rs28536160
1 1 206117948 intron variant A/G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs3795310
rs3795310
2 1.000 0.040 1 8371547 intron variant C/T snv 0.54 0.700 1.000 1 2018 2018
dbSNP: rs4554696
rs4554696
2 1 65942328 intron variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs4839421
rs4839421
3 0.925 0.040 1 110479338 intron variant C/A snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs6661750
rs6661750
2 1 66081201 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs6675281
rs6675281
7 0.827 0.080 1 231818355 missense variant C/T snv 0.11 0.14 0.010 1.000 1 2013 2013
dbSNP: rs75507262
rs75507262
2 1.000 0.040 1 229213737 intergenic variant A/G snv 8.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs75650221
rs75650221
2 1.000 0.040 1 174452856 intron variant C/T snv 4.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs913687
rs913687
2 1.000 0.040 1 174805993 intron variant A/G snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.020 1.000 2 2011 2017