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: 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: rs188845491
rs188845491
1 1.000 0.040 7 99689016 intron variant C/T snv 2.5E-04 0.700 1.000 1 2015 2015
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: rs190543502
rs190543502
2 0.925 0.040 15 43464986 intron variant T/A;C snv 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: rs2733201
rs2733201
2 0.925 0.040 15 44116203 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs35610040
rs35610040
2 1.000 0.040 20 23635832 intron variant T/C snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs4357117
rs4357117
2 0.925 0.040 6 66873865 intergenic variant G/T snv 1.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs57578064
rs57578064
2 0.925 0.040 9 37590253 intron variant G/A snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs61361928
rs61361928
1 1.000 0.040 4 69096657 missense variant T/C snv 2.6E-03 2.8E-03 0.700 1.000 1 2015 2015
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: 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: 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: 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: 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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2004 2012
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: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2005 2017
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: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.020 1.000 2 2013 2014
dbSNP: rs10811656
rs10811656
7 0.807 0.200 9 22124473 intron variant C/T snv 0.47 0.020 1.000 2 2013 2016
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