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: rs9818870
rs9818870
9 0.807 0.200 3 138403280 3 prime UTR variant C/A;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs9295128
rs9295128
2 0.925 0.040 6 160330499 intergenic variant G/T snv 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.010 1.000 1 2002 2002
dbSNP: rs869109213
rs869109213
10 0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins 0.010 1.000 1 2019 2019
dbSNP: rs8259
rs8259
BSG
9 0.776 0.200 19 582927 3 prime UTR variant T/A snv 0.39 0.020 1.000 2 2015 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: rs8075977
rs8075977
5 0.827 0.160 17 1757507 upstream gene variant T/C snv 0.37 0.010 1.000 1 2018 2018
dbSNP: rs8053257
rs8053257
2 0.925 0.120 16 75640790 intron variant G/A snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs8048002
rs8048002
4 0.851 0.320 16 10898131 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs76863441
rs76863441
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2016 2016
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: rs751141
rs751141
16 0.732 0.400 8 27516348 missense variant G/A snv 0.12 0.10 0.010 1.000 1 2018 2018
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: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs708272
rs708272
24 0.708 0.440 16 56962376 intron variant G/A snv 0.42 0.38 0.010 1.000 1 2013 2013
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: rs697829
rs697829
2 0.925 0.160 X 109623948 3 prime UTR variant G/A snv 0.010 1.000 1 2012 2012
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: rs6922269
rs6922269
7 0.807 0.200 6 150931849 intron variant G/A snv 0.35 0.020 1.000 2 2014 2015
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2011 2018
dbSNP: rs670
rs670
13 0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.030 0.667 3 2011 2019
dbSNP: rs659366
rs659366
17 0.724 0.520 11 73983709 non coding transcript exon variant C/T snv 0.40 0.010 < 0.001 1 2016 2016
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2016 2016