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: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2019 2019
dbSNP: rs4646038
rs4646038
2 0.925 0.080 1 15506705 intron variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs4656942
rs4656942
4 0.851 0.160 1 160861258 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 2005 2005
dbSNP: rs485618
rs485618
4 0.851 0.160 1 160830690 3 prime UTR variant T/A;C;G snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs56073403
rs56073403
AGT
3 0.882 0.160 1 230710009 missense variant T/C snv 7.2E-04 6.8E-04 0.010 1.000 1 2005 2005
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: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2012
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1682111
rs1682111
13 0.742 0.240 2 54200842 intron variant A/T snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs2234671
rs2234671
7 0.807 0.240 2 218164385 missense variant C/G snv 9.1E-02 0.11 0.010 1.000 1 2013 2013
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
dbSNP: rs2292832
rs2292832
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.010 1.000 1 2017 2017
dbSNP: rs6721961
rs6721961
24 0.672 0.520 2 177265309 intron variant T/C;G snv 0.89 0.010 1.000 1 2019 2019
dbSNP: rs843645
rs843645
5 0.827 0.120 2 54247527 intron variant T/A;G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs843720
rs843720
10 0.752 0.280 2 54283523 intron variant T/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs16851720
rs16851720
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs4074
rs4074
6 0.827 0.200 4 73870427 intron variant A/G snv 0.46 0.020 1.000 2 2012 2013
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.020 1.000 2 2012 2014
dbSNP: rs72613567
rs72613567
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020
dbSNP: rs10020432
rs10020432
AFP
2 0.925 0.080 4 73455883 3 prime UTR variant A/G snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs10433937
rs10433937
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1485766
rs1485766
3 0.882 0.120 4 176689730 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2298839
rs2298839
AFP
2 0.925 0.080 4 73445127 splice region variant A/G;T snv 0.54 0.010 1.000 1 2010 2010