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: rs10196867
rs10196867
5 0.925 0.080 2 79751234 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs147247472
rs147247472
5 0.925 0.080 1 49441901 intron variant G/A snv 7.3E-04 0.700 1.000 1 2019 2019
dbSNP: rs2133896
rs2133896
5 0.925 0.080 12 99455122 intron variant G/T snv 7.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs2288156
rs2288156
1 1.000 0.080 17 8741536 missense variant C/A;T snv 4.0E-06; 8.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs4791746
rs4791746
1 1.000 0.080 17 8723039 intergenic variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.070 0.857 7 2001 2017
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.040 1.000 4 2009 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 1.000 4 2011 2016
dbSNP: rs1079597
rs1079597
5 0.827 0.080 11 113425564 intron variant C/T snv 0.18 0.020 1.000 2 2013 2019
dbSNP: rs2234918
rs2234918
5 0.827 0.200 1 28863085 synonymous variant C/T snv 0.59 0.50 0.020 1.000 2 2002 2019
dbSNP: rs2236857
rs2236857
1 1.000 0.080 1 28835097 intron variant T/C snv 0.28 0.020 1.000 2 2014 2019
dbSNP: rs3778150
rs3778150
2 0.925 0.080 6 154062523 intron variant T/C snv 0.17 0.020 1.000 2 2015 2017
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.020 1.000 2 2009 2014
dbSNP: rs6943555
rs6943555
5 0.882 0.080 7 70341037 intron variant T/A snv 0.34 0.020 1.000 2 2013 2014
dbSNP: rs10078866
rs10078866
2 1.000 0.080 5 175445317 upstream gene variant A/G snv 5.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs1022563
rs1022563
2 0.925 0.080 20 1973693 intron variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1042114
rs1042114
6 0.807 0.120 1 28812463 missense variant G/C;T snv 0.91 0.010 1.000 1 2002 2002
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2010 2010
dbSNP: rs10494334
rs10494334
1 1.000 0.080 1 163535374 intergenic variant G/A snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs10767664
rs10767664
16 0.752 0.400 11 27704439 intron variant T/A snv 0.83 0.010 1.000 1 2016 2016
dbSNP: rs11030096
rs11030096
3 0.925 0.160 11 27643996 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11030104
rs11030104
12 0.790 0.240 11 27662970 intron variant A/G snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs1122079
rs1122079
1 1.000 0.080 17 65218385 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2017 2017