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: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 1.000 12 2007 2015
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.050 0.600 5 1999 2012
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2014 2018
dbSNP: rs4818
rs4818
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.020 1.000 2 2012 2016
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1048101
rs1048101
5 0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56 0.010 1.000 1 2009 2009
dbSNP: rs11030104
rs11030104
12 0.790 0.240 11 27662970 intron variant A/G snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs11127292
rs11127292
2 0.925 0.160 2 2026171 intron variant C/T snv 0.11 0.010 1.000 1 2014 2014
dbSNP: rs1126858
rs1126858
1 1.000 0.080 4 76021932 stop lost A/G snv 2.9E-04 2.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs1129844
rs1129844
13 0.752 0.320 17 34285875 missense variant G/A;C;T snv 0.16; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs12273539
rs12273539
2 0.925 0.120 11 27661764 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs1314305899
rs1314305899
6 0.807 0.280 7 151003224 missense variant C/T snv 7.9E-06 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs1383914
rs1383914
1 1.000 0.080 8 26865532 5 prime UTR variant T/C snv 0.47 0.010 1.000 1 2009 2009
dbSNP: rs1719152
rs1719152
1 1.000 0.080 17 36105271 missense variant T/A snv 0.21 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2007 2007
dbSNP: rs1800541
rs1800541
5 0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs2097903
rs2097903
1 1.000 0.080 7 10642782 intron variant A/T snv 0.51 0.010 1.000 1 2018 2018
dbSNP: rs224222
rs224222
15 0.724 0.440 16 3254463 missense variant C/T snv 0.24 0.21 0.010 1.000 1 2012 2012
dbSNP: rs2297518
rs2297518
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2015 2015
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs35699176
rs35699176
1 1.000 0.080 19 2936537 stop gained G/A snv 3.1E-02 3.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs375382379
rs375382379
5 0.882 0.160 5 143399792 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs3771863
rs3771863
2 0.925 0.240 2 75192588 intron variant C/T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs4633
rs4633
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 < 0.001 1 2016 2016