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: rs1000113
rs1000113
2 0.925 0.040 5 150860514 intron variant C/T snv 0.13 0.010 1.000 1 2009 2009
dbSNP: rs1001007
rs1001007
5 0.827 0.120 3 46387167 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10010325
rs10010325
4 1.000 0.040 4 105185196 intron variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10035653
rs10035653
1 1.000 0.040 5 442675 non coding transcript exon variant G/A;T snv 9.1E-02; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1004234
rs1004234
5 0.827 0.120 5 132421409 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1004819
rs1004819
9 0.776 0.360 1 67204530 intron variant G/A snv 0.30 0.050 0.800 5 2007 2017
dbSNP: rs10063949
rs10063949
4 0.882 0.080 5 139383837 intron variant T/C snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs10094579
rs10094579
6 0.807 0.280 8 89837077 downstream gene variant C/A snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs10114470
rs10114470
4 0.882 0.080 9 114785492 3 prime UTR variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs1016883
rs1016883
1 1.000 0.040 2 198016944 intron variant G/A snv 0.20 0.800 1.000 1 2012 2012
dbSNP: rs10174238
rs10174238
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.010 1.000 1 2010 2010
dbSNP: rs10185424
rs10185424
2 0.925 0.040 2 102046427 intron variant T/G snv 0.62 0.710 1.000 2 2015 2016
dbSNP: rs1020856343
rs1020856343
5 0.851 0.240 5 132393705 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs10226620
rs10226620
4 1.000 0.040 7 1541881 3 prime UTR variant T/C snv 0.69 0.010 < 0.001 1 2017 2017
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2010 2010
dbSNP: rs10415946
rs10415946
1 1.000 0.040 19 41755151 intron variant A/G snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs10416839
rs10416839
1 1.000 0.040 19 41776424 intron variant G/T snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2007 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.850 20 2003 2018
dbSNP: rs1047781
rs1047781
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs1048230
rs1048230
5 0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15 0.010 1.000 1 2000 2000
dbSNP: rs104895467
rs104895467
5 0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs104895486
rs104895486
2 0.925 0.040 16 50716670 missense variant C/G;T snv 4.0E-06; 8.0E-05 0.010 1.000 1 2006 2006
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: rs1049526
rs1049526
3 0.925 0.040 6 32981027 3 prime UTR variant C/T snv 0.93 0.700 1.000 1 2016 2016