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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 2017
dbSNP: rs11573156
rs11573156
5 0.882 0.240 1 19979653 5 prime UTR variant G/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs1234314
rs1234314
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs12566888
rs12566888
7 0.807 0.280 1 156899255 intron variant G/T snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs12740374
rs12740374
16 0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs17568
rs17568
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2019 2019
dbSNP: rs201052613
rs201052613
3 0.882 0.080 1 173026503 intron variant T/-;TT delins 9.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs2768759
rs2768759
4 0.851 0.200 1 156882671 downstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs3737224
rs3737224
3 0.882 0.160 1 156909788 synonymous variant C/T snv 0.14 0.13 0.010 1.000 1 2018 2018
dbSNP: rs3850641
rs3850641
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs41273215
rs41273215
3 0.882 0.160 1 156912167 intron variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs5065
rs5065
12 0.763 0.240 1 11846011 stop lost A/G snv 0.14 0.21 0.010 1.000 1 2012 2012
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2005 2005
dbSNP: rs747112750
rs747112750
1 1.000 0.040 1 202307363 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs7528419
rs7528419
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs822442
rs822442
4 0.851 0.160 1 156913423 missense variant C/A;T snv 0.14; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2075252
rs2075252
5 0.925 0.160 2 169154475 stop gained T/A;C snv 0.76 0.010 1.000 1 2020 2020
dbSNP: rs4668123
rs4668123
6 0.851 0.280 2 169196995 missense variant C/A;G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs5940
rs5940
3 0.882 0.080 2 187466977 missense variant C/T snv 1.3E-02 1.4E-02 0.010 1.000 1 1999 1999
dbSNP: rs693
rs693
24 0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2018 2018
dbSNP: rs3732378
rs3732378
48 0.620 0.720 3 39265671 missense variant G/A snv 0.14 0.12 0.020 1.000 2 2005 2018
dbSNP: rs11915606
rs11915606
BTD
2 0.925 0.040 3 15633655 intron variant T/G snv 3.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs12696304
rs12696304
10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.010 < 0.001 1 2016 2016