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: rs1495965
rs1495965
8 0.790 0.280 1 67287825 intergenic variant C/T snv 0.55 0.020 < 0.001 2 2015 2017
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: 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: rs11747270
rs11747270
7 0.790 0.240 5 150879305 intron variant A/G snv 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs13294
rs13294
2 0.925 0.040 1 150512511 missense variant G/A;T snv 0.35; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.010 < 0.001 1 2001 2001
dbSNP: rs180802994
rs180802994
2 0.925 0.040 5 150848174 missense variant G/A;C;T snv 4.6E-05; 7.2E-03; 6.5E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs2228226
rs2228226
6 0.851 0.160 12 57472038 missense variant G/C snv 0.60 0.68 0.010 < 0.001 1 2010 2010
dbSNP: rs272879
rs272879
4 0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57 0.010 < 0.001 1 2010 2010
dbSNP: rs376377228
rs376377228
3 0.925 0.040 1 67182950 missense variant A/G snv 1.6E-05 2.1E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs4796793
rs4796793
16 0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 0.010 < 0.001 1 2014 2014
dbSNP: rs5743810
rs5743810
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 < 0.001 1 2006 2006
dbSNP: rs721917
rs721917
14 0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 0.010 < 0.001 1 2011 2011
dbSNP: rs72796353
rs72796353
5 0.882 0.080 16 50712383 3 prime UTR variant A/C snv 1.3E-02 1.4E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1333407770
rs1333407770
3 0.925 0.040 10 77811115 frameshift variant G/-;GG delins 0.020 0.500 2 2007 2016
dbSNP: rs13361189
rs13361189
13 0.752 0.240 5 150843825 upstream gene variant T/C snv 0.21 0.020 0.500 2 2009 2013
dbSNP: rs1343151
rs1343151
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.020 0.500 2 2015 2017
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 0.500 2 2010 2012
dbSNP: rs2066847
rs2066847
18 0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02 0.020 0.500 2 2010 2015
dbSNP: rs2243639
rs2243639
4 0.882 0.080 10 79941966 missense variant T/C;G snv 0.66 0.020 0.500 2 2009 2011
dbSNP: rs2289310
rs2289310
3 0.925 0.040 10 77811115 missense variant G/A;C;T snv 4.0E-06; 8.0E-06; 5.7E-02 0.020 0.500 2 2007 2016
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 0.500 2 2001 2015
dbSNP: rs962917
rs962917
4 0.882 0.040 19 17191438 intron variant G/A snv 0.45 0.020 0.500 2 2014 2016
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.050 0.600 5 2009 2017