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: rs719250
rs719250
5 0.827 0.200 2 102007256 intron variant C/T snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs3218896
rs3218896
6 0.807 0.160 2 102015190 intron variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs3218977
rs3218977
6 0.807 0.240 2 102024739 3 prime UTR variant A/G snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs10490571
rs10490571
5 0.827 0.320 2 102100877 intron variant C/T snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1520220
rs1520220
9 0.807 0.280 12 102402744 intron variant G/C;T snv 0.76 0.010 1.000 1 2018 2018
dbSNP: rs2195239
rs2195239
7 0.851 0.240 12 102462924 non coding transcript exon variant C/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs2033562
rs2033562
1 1.000 0.120 8 102535511 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs17019602
rs17019602
1 1.000 0.120 1 107646236 intron variant A/G snv 0.19 0.710 1.000 2 2014 2017
dbSNP: rs10488764
rs10488764
1 1.000 0.120 11 110460907 intron variant G/A snv 0.18 0.020 1.000 2 2015 2015
dbSNP: rs4849121
rs4849121
3 0.925 0.160 2 110842129 intron variant G/A snv 0.44 0.800 1.000 1 2011 2011
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs11102930
rs11102930
2 0.925 0.160 1 115338434 intron variant G/A snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs7389
rs7389
1 1.000 0.120 11 118657756 3 prime UTR variant T/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs13124532
rs13124532
2 1.000 0.120 4 119495290 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs4077515
rs4077515
11 0.763 0.360 9 136372044 missense variant C/A;T snv 4.0E-06; 0.41 0.710 1.000 2 2014 2017
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 < 0.001 1 2015 2015
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2009 2017
dbSNP: rs1369270
rs1369270
1 1.000 0.120 2 153179546 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs11264793
rs11264793
1 1.000 0.120 1 157677736 3 prime UTR variant A/T snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs11264794
rs11264794
2 1.000 0.120 1 157677999 3 prime UTR variant C/A snv 0.63 0.020 1.000 2 2019 2020
dbSNP: rs6691569
rs6691569
1 1.000 0.120 1 157678308 3 prime UTR variant G/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs7522061
rs7522061
4 0.882 0.320 1 157698600 missense variant T/C;G snv 0.45 0.51 0.010 1.000 1 2020 2020
dbSNP: rs11264799
rs11264799
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.720 1.000 3 2015 2020