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: rs2596542
rs2596542
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.900 1.000 20 2011 2019
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.900 0.833 12 2010 2019
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.900 0.909 11 2013 2019
dbSNP: rs9275319
rs9275319
6 0.807 0.200 6 32698518 intergenic variant A/G snv 0.15 0.850 0.800 5 2013 2018
dbSNP: rs9275572
rs9275572
15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.840 1.000 6 2011 2017
dbSNP: rs121913409
rs121913409
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.820 1.000 3 2016 2018
dbSNP: rs4678680
rs4678680
1 1.000 0.080 3 32978543 intergenic variant G/T snv 0.73 0.810 1.000 3 2010 2016
dbSNP: rs121913407
rs121913407
12 0.763 0.240 3 41224645 missense variant T/C;G snv 0.810 1.000 2 2015 2016
dbSNP: rs121913413
rs121913413
11 0.763 0.240 3 41224634 missense variant C/A;T snv 0.810 1.000 2 2015 2016
dbSNP: rs9272105
rs9272105
2 0.925 0.120 6 32632222 intron variant G/A snv 0.55 0.810 1.000 2 2012 2015
dbSNP: rs455804
rs455804
1 1.000 0.080 21 29773850 intron variant A/C;G snv 0.810 1.000 1 2012 2012
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.800 1.000 22 1994 2020
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.800 1.000 2 2005 2016
dbSNP: rs121913228
rs121913228
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.800 1.000 1 2016 2016
dbSNP: rs121913396
rs121913396
13 0.732 0.200 3 41224607 missense variant A/C;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs121913399
rs121913399
13 0.724 0.200 3 41224612 missense variant G/A;C snv 0.800 1.000 1 2016 2016
dbSNP: rs121913400
rs121913400
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs121913403
rs121913403
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs121913412
rs121913412
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.800 1.000 1 2016 2016
dbSNP: rs28931588
rs28931588
17 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.800 1.000 1 2016 2016
dbSNP: rs1012068
rs1012068
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.760 1.000 7 2013 2019
dbSNP: rs2856718
rs2856718
8 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.750 1.000 6 2012 2017
dbSNP: rs3077
rs3077
16 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.740 0.600 5 2011 2015
dbSNP: rs7453920
rs7453920
10 0.752 0.440 6 32762235 intron variant A/G;T snv 0.740 0.800 5 2012 2018
dbSNP: rs9277535
rs9277535
13 0.724 0.440 6 33087084 3 prime UTR variant A/G snv 0.25 0.740 0.800 5 2012 2015