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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs10013495
rs10013495
1 1.000 0.040 4 144584486 intron variant C/T snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs1002149
rs1002149
1 1.000 0.040 8 30728221 upstream gene variant G/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1038376
rs1038376
1 1.000 0.040 19 41018104 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1042711
rs1042711
5 0.827 0.120 5 148826785 5 prime UTR variant C/A;G;T snv 4.2E-06; 0.68 0.010 1.000 1 2017 2017
dbSNP: rs1048290
rs1048290
4 0.851 0.160 19 10489766 synonymous variant G/C snv 0.41 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1048829
rs1048829
4 0.925 0.080 2 202565733 3 prime UTR variant T/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1051052
rs1051052
1 1.000 0.040 14 94377595 3 prime UTR variant A/G snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2017 2017
dbSNP: rs10519225
rs10519225
1 1.000 0.040 15 49428581 intron variant G/A snv 0.28 0.010 1.000 1 2012 2012
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2009 2009
dbSNP: rs1059823
rs1059823
1 1.000 0.040 2 218395121 3 prime UTR variant A/G snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs10851906
rs10851906
2 1.000 0.040 15 78482334 intron variant A/G snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs10873142
rs10873142
1 1.000 0.040 14 61736744 intron variant C/T snv 0.67 0.010 1.000 1 2018 2018
dbSNP: rs11046966
rs11046966
1 1.000 0.040 12 23524758 downstream gene variant T/C snv 0.24 0.010 < 0.001 1 2011 2011
dbSNP: rs11134242
rs11134242
1 1.000 0.040 5 7563902 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs111720447
rs111720447
1 1.000 0.040 7 69238318 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1129055
rs1129055
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.010 1.000 1 2010 2010
dbSNP: rs1136450
rs1136450
1 1.000 0.040 10 79611973 missense variant C/G snv 0.49 0.53 0.010 1.000 1 2010 2010
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11549467
rs11549467
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs11640522
rs11640522
1 1.000 0.040 16 82766763 intron variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs11640875
rs11640875
1 1.000 0.040 16 82687819 intron variant A/C;G snv 0.010 1.000 1 2016 2016