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: rs113681054
rs113681054
1 1.000 0.040 12 21250045 intergenic variant T/C snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs117714106
rs117714106
3 0.882 0.080 14 84338144 intergenic variant C/T snv 9.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs12149545
rs12149545
7 0.851 0.080 16 56959249 upstream gene variant G/A snv 0.23 0.010 1.000 1 2013 2013
dbSNP: rs12290663
rs12290663
2 0.925 0.040 11 26141193 intergenic variant G/A snv 5.7E-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
dbSNP: rs140104968
rs140104968
1 1.000 0.040 7 99946004 intron variant C/T snv 1.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs140607780
rs140607780
1 1.000 0.040 7 100505900 upstream gene variant G/A snv 1.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs144972973
rs144972973
2 0.925 0.040 15 44272494 intergenic variant A/G snv 1.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs149232047
rs149232047
2 0.925 0.040 6 126276990 intergenic variant A/G snv 1.5E-04 0.700 1.000 1 2017 2017
dbSNP: rs16999497
rs16999497
2 0.925 0.040 X 129601222 regulatory region variant T/C snv 7.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs17398575
rs17398575
3 0.882 0.040 7 106769006 intron variant G/A snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs186696265
rs186696265
6 0.882 0.040 6 160690668 intergenic variant C/T snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs189889864
rs189889864
2 0.925 0.040 9 104634643 downstream gene variant G/A snv 2.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs192427471
rs192427471
2 0.925 0.040 4 124644124 intergenic variant C/T snv 2.4E-03 0.700 1.000 1 2017 2017
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: rs201394051
rs201394051
2 0.925 0.040 5 117697919 intergenic variant TA/-;TATA;TATATA delins 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: rs62471956
rs62471956
1 1.000 0.040 7 99823462 upstream gene variant G/A snv 3.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs62568141
rs62568141
2 0.925 0.040 9 77012344 regulatory region variant C/T snv 2.4E-02 0.700 1.000 1 2017 2017
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: 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: rs559110055
rs559110055
2 0.925 0.160 9 104840491 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2009 2015
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2020 2020