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: rs1042028
rs1042028
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.070 1.000 7 2004 2016
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.933 45 2002 2019
dbSNP: rs1042667
rs1042667
3 1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1042821
rs1042821
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2014 2014
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1044129
rs1044129
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1044250
rs1044250
12 0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1044471
rs1044471
4 1.000 0.080 12 1787790 3 prime UTR variant C/T snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.050 0.800 5 2010 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.909 11 2005 2013
dbSNP: rs1047344644
rs1047344644
2 7 143268092 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1047768
rs1047768
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2017 2017
dbSNP: rs1047840
rs1047840
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.040 0.750 4 2012 2016
dbSNP: rs1047972
rs1047972
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.030 1.000 3 2014 2017
dbSNP: rs10486567
rs10486567
8 0.851 0.120 7 27936944 intron variant G/A snv 0.28 0.010 < 0.001 1 2010 2010
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: rs104886003
rs104886003
43 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.030 1.000 3 2013 2016
dbSNP: rs104893626
rs104893626
11 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2016 2016
dbSNP: rs104893751
rs104893751
4 0.882 0.240 3 9750423 missense variant G/A;C snv 2.2E-03; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs104894228
rs104894228
22 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs104894229
rs104894229
23 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.020 1.000 2 2012 2020
dbSNP: rs104894230
rs104894230
42 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.020 1.000 2 2006 2015
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.060 1.000 6 2003 2019
dbSNP: rs104894309
rs104894309
3 0.851 0.200 11 112086940 stop gained C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs104894365
rs104894365
7 0.827 0.320 12 25245345 missense variant C/T snv 0.010 1.000 1 2016 2016