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: rs4282438
rs4282438
6 0.807 0.280 6 33104395 intron variant T/G snv 3.1E-02 0.800 1.000 1 2013 2013
dbSNP: rs485497
rs485497
2 0.925 0.200 3 160001345 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs5029939
rs5029939
19 0.701 0.440 6 137874586 intron variant C/G snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs6579837
rs6579837
1 1.000 0.200 5 151055333 intron variant G/T snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs6933404
rs6933404
5 0.925 0.280 6 137638098 intergenic variant T/C snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs7119038
rs7119038
1 1.000 0.200 11 118867572 intergenic variant G/A snv 0.77 0.700 1.000 1 2013 2013
dbSNP: rs9271588
rs9271588
6 0.925 0.200 6 32623176 TF binding site variant T/C snv 0.43 0.800 1.000 1 2013 2013
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs61756766
rs61756766
9 0.776 0.320 22 41925447 missense variant G/A snv 5.7E-03 5.7E-03 0.010 1.000 1 2015 2015
dbSNP: rs10774671
rs10774671
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.020 1.000 2 2017 2017
dbSNP: rs11048434
rs11048434
1 1.000 0.200 12 9001336 intron variant G/A snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs11889341
rs11889341
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs17074492
rs17074492
1 1.000 0.200 13 81587764 intergenic variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1957173
rs1957173
1 1.000 0.200 14 45937713 intron variant C/T snv 4.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs3823536
rs3823536
2 0.925 0.280 7 128939612 intron variant G/A snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs7341475
rs7341475
6 0.851 0.240 7 103764368 intron variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.700 1.000 1 2017 2017
dbSNP: rs7999279
rs7999279
1 1.000 0.200 13 47376590 intergenic variant A/C snv 0.76 0.700 1.000 1 2017 2017
dbSNP: rs9271573
rs9271573
1 1.000 0.200 6 32622724 TF binding site variant A/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs9277554
rs9277554
7 0.790 0.520 6 33087761 3 prime UTR variant C/T snv 0.38 0.700 1.000 1 2017 2017
dbSNP: rs9938751
rs9938751
1 1.000 0.200 16 12908502 missense variant T/A;C snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs116855232
rs116855232
12 0.742 0.400 13 48045719 missense variant C/T snv 2.8E-02 1.1E-02 0.010 1.000 1 2018 2018