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: rs267607102
rs267607102
5 0.851 0.120 1 11022196 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs646776
rs646776
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.010 1.000 1 2010 2010
dbSNP: rs80356717
rs80356717
5 0.851 0.120 1 11018836 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs80356726
rs80356726
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs4859147
rs4859147
1 1.000 0.120 3 182964065 intron variant T/C snv 0.56 0.48 0.010 1.000 1 2009 2009
dbSNP: rs63750355
rs63750355
5 0.827 0.160 3 87253472 stop gained C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2015 2018
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2016 2016
dbSNP: rs2234253
rs2234253
5 0.827 0.120 6 41161367 missense variant G/A;C;T snv 1.9E-04; 1.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.040 1.000 4 2011 2015
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs3173615
rs3173615
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2020 2020
dbSNP: rs10814083
rs10814083
3 0.882 0.160 9 34256349 synonymous variant C/T snv 0.40 0.34 0.010 1.000 1 2010 2010
dbSNP: rs121909335
rs121909335
VCP
9 0.776 0.200 9 35065351 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs17350674
rs17350674
1 1.000 0.120 9 34306412 stop gained C/A;T snv 0.16; 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs706118
rs706118
1 1.000 0.120 9 33256181 intron variant T/G snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs1415210991
rs1415210991
1 1.000 0.120 11 27701003 5 prime UTR variant G/C snv 4.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs1431475678
rs1431475678
1 1.000 0.120 11 27658555 missense variant G/C snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 1.000 2 2007 2008
dbSNP: rs76980269
rs76980269
10 0.763 0.280 12 117330794 synonymous variant G/A snv 2.8E-05 4.2E-05 0.020 1.000 2 2008 2009
dbSNP: rs1163763
rs1163763
2 0.925 0.120 12 17567834 intron variant G/T snv 0.24 0.010 1.000 1 2009 2009
dbSNP: rs750444386
rs750444386
6 0.807 0.360 12 117268082 synonymous variant C/A;T snv 4.0E-06; 5.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs7967622
rs7967622
1 1.000 0.120 12 54284196 intron variant C/T snv 0.76 0.010 1.000 1 2011 2011