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: rs10063949
rs10063949
4 0.882 0.080 5 139383837 intron variant T/C snv 0.48 0.010 1.000 1 2014 2014
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: 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: rs10249788
rs10249788
6 0.827 0.160 7 17298523 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1041981
rs1041981
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2006 2006
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs10431923
rs10431923
2 0.925 0.120 16 68805360 intron variant G/T snv 0.44 0.010 1.000 1 2009 2009
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: rs104895461
rs104895461
4 0.882 0.120 16 50710912 missense variant G/A;C snv 0.010 1.000 1 2004 2004
dbSNP: rs104895482
rs104895482
1 1.000 0.040 16 50711298 missense variant C/G snv 0.010 1.000 1 2006 2006
dbSNP: rs104895484
rs104895484
1 1.000 0.040 16 50712282 missense variant C/T snv 5.2E-05 8.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs104895485
rs104895485
1 1.000 0.040 16 50716599 missense variant C/G snv 4.0E-06 0.010 1.000 1 2006 2006
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: rs1049793
rs1049793
4 0.882 0.080 7 150860577 missense variant C/G;T snv 0.37 0.37 0.010 < 0.001 1 2009 2009
dbSNP: rs10499563
rs10499563
7 0.807 0.120 7 22720869 intron variant T/C snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs1050450
rs1050450
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 1.000 1 2017 2017
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2015 2015
dbSNP: rs10733113
rs10733113
3 0.882 0.160 1 247459055 upstream gene variant A/G snv 0.81 0.010 1.000 1 2009 2009
dbSNP: rs1088967
rs1088967
4 0.851 0.080 X 127010099 intergenic variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs10975003
rs10975003
3 0.882 0.080 9 5213687 intergenic variant T/C snv 0.43 0.010 1.000 1 2011 2011
dbSNP: rs11242115
rs11242115
1 1.000 0.040 5 132490721 5 prime UTR variant G/C snv 0.26 0.010 1.000 1 2006 2006
dbSNP: rs11264799
rs11264799
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.010 1.000 1 2007 2007
dbSNP: rs1127233
rs1127233
2 0.925 0.040 3 124908177 missense variant T/G snv 0.24 0.26 0.010 1.000 1 2006 2006