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: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2019 2019
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 2010 2010
dbSNP: rs2806864
rs2806864
2 0.925 0.120 1 116927159 intron variant C/G snv 0.17 0.800 1.000 1 2010 2010
dbSNP: rs10194115
rs10194115
2 0.925 0.120 2 47012873 intron variant G/T snv 0.10 0.800 1.000 1 2010 2010
dbSNP: rs13397985
rs13397985
5 0.827 0.280 2 230226508 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1527243
rs1527243
2 0.925 0.120 2 122533446 intron variant C/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs17483466
rs17483466
5 0.827 0.280 2 111039881 intron variant A/G snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs2268363
rs2268363
2 0.925 0.120 2 48974189 intron variant A/G snv 0.23 0.810 1.000 1 2010 2010
dbSNP: rs2254298
rs2254298
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs9810233
rs9810233
2 0.925 0.200 3 105292046 intergenic variant A/G snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs9850225
rs9850225
1 1.000 0.080 3 80816613 intergenic variant G/C snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs766603251
rs766603251
2 1.000 0.080 4 119565333 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2017 2017
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs17185536
rs17185536
2 1.000 0.080 6 100173055 upstream gene variant C/G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2013 2013
dbSNP: rs2781659
rs2781659
1 1.000 0.080 6 131570680 intron variant A/G snv 0.42 0.010 1.000 1 2015 2015
dbSNP: rs57989773
rs57989773
2 1.000 0.080 6 100181202 downstream gene variant T/C snv 0.23 0.710 1.000 1 2019 2019
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs872071
rs872071
13 0.742 0.360 6 411064 3 prime UTR variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs9378805
rs9378805
4 0.851 0.280 6 417727 intergenic variant A/C snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 1.000 13 2003 2019
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2013 2013