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: rs149840192
rs149840192
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.710 1.000 2 2016 2018
dbSNP: rs16906252
rs16906252
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.020 1.000 2 2013 2015
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.020 1.000 2 2007 2013
dbSNP: rs1801320
rs1801320
15 0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12 0.020 1.000 2 2016 2018
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.020 1.000 2 2015 2018
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2013 2016
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.020 1.000 2 2011 2015
dbSNP: rs4977756
rs4977756
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.020 1.000 2 2016 2020
dbSNP: rs634537
rs634537
6 0.851 0.080 9 22032153 intron variant T/G snv 0.28 0.700 1.000 2 2017 2018
dbSNP: rs723527
rs723527
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 2 2017 2018
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.710 1.000 2 2009 2016
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 1.000 2 2017 2018
dbSNP: rs891835
rs891835
5 0.851 0.120 8 129479506 intron variant T/G snv 0.17 0.020 1.000 2 2010 2014
dbSNP: rs1005230
rs1005230
5 0.827 0.040 6 43768759 upstream gene variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs1029044314
rs1029044314
4 0.851 0.040 6 30898095 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs10464870
rs10464870
3 0.882 0.040 8 129465577 intron variant C/T snv 0.80 0.010 1.000 1 2010 2010
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519757
rs1057519757
5 0.882 0.120 5 68293310 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519888
rs1057519888
3 0.925 0.080 7 55143386 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519897
rs1057519897
6 0.807 0.240 8 38414788 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016