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: rs1801160
rs1801160
6 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.040 1.000 4 2009 2019
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.030 1.000 3 2012 2019
dbSNP: rs2814778
rs2814778
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.030 1.000 3 2008 2019
dbSNP: rs67376798
rs67376798
9 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 0.030 1.000 3 2014 2019
dbSNP: rs2297595
rs2297595
10 0.776 0.320 1 97699535 missense variant T/C snv 8.5E-02 8.1E-02 0.020 1.000 2 2009 2019
dbSNP: rs12046844
rs12046844
2 0.925 0.040 1 65772696 regulatory region variant G/A snv 0.17 0.010 1.000 1 2012 2012
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 2018 2018
dbSNP: rs17376848
rs17376848
3 0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs1801265
rs1801265
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs2067079
rs2067079
7 0.807 0.240 1 173866073 non coding transcript exon variant C/T snv 0.22 0.18 0.010 1.000 1 2017 2017
dbSNP: rs3918290
rs3918290
3 0.882 0.080 1 97450058 splice donor variant C/G;T snv 8.0E-06; 5.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs546229463
rs546229463
2 0.925 0.040 1 161629912 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs60369023
rs60369023
CDA
4 0.851 0.240 1 20604981 missense variant G/A snv 2.6E-04 1.5E-04 0.010 1.000 1 2007 2007
dbSNP: rs6790
rs6790
7 0.790 0.320 1 173865494 non coding transcript exon variant G/A snv 8.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs879255237
rs879255237
7 0.807 0.160 1 150077763 missense variant C/A snv 0.010 1.000 1 2013 2013
dbSNP: rs104893624
rs104893624
4 0.851 0.200 2 136114928 stop gained G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1901440
rs1901440
2 0.925 0.040 2 133680388 intergenic variant C/A snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs3087403
rs3087403
2 0.925 0.040 2 99442408 missense variant C/T snv 0.28 0.28 0.010 1.000 1 2014 2014
dbSNP: rs3136228
rs3136228
2 0.925 0.040 2 47782677 intron variant T/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs4124874
rs4124874
8 0.851 0.120 2 233757013 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs7608692
rs7608692
2 0.925 0.040 2 201246236 intron variant G/A snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs8175347
rs8175347
16 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 0.010 1.000 1 2015 2015
dbSNP: rs11706052
rs11706052
3 0.882 0.080 3 49026677 intron variant A/G snv 8.3E-02 7.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs11719165
rs11719165
2 0.925 0.040 3 194865359 intergenic variant T/C snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs1801019
rs1801019
4 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 0.010 1.000 1 2006 2006