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: 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: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2005 2005
dbSNP: rs10507391
rs10507391
10 0.776 0.320 13 30737959 intron variant A/T snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs10757274
rs10757274
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs10757279
rs10757279
3 0.925 0.040 9 22124631 intron variant A/G snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2010 2010
dbSNP: rs1129293
rs1129293
3 0.882 0.040 7 106872566 synonymous variant C/T snv 0.32 0.26 0.010 1.000 1 2017 2017
dbSNP: rs11573156
rs11573156
5 0.882 0.240 1 19979653 5 prime UTR variant G/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs11635252
rs11635252
4 0.925 0.080 15 90528542 upstream gene variant T/C snv 0.88 0.010 1.000 1 2018 2018