Source: BEFREE ×
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
14 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.900 1.000 18 2011 2019
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.900 0.833 11 2010 2019
dbSNP: rs7574865
rs7574865
54 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
8 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.840 1.000 4 2011 2017
dbSNP: rs121913409
rs121913409
13 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.820 1.000 2 2016 2018
dbSNP: rs121913407
rs121913407
3 0.763 0.240 3 41224645 missense variant T/C;G snv 0.810 1.000 1 2015 2016
dbSNP: rs121913413
rs121913413
2 0.763 0.240 3 41224634 missense variant C/A;T snv 0.810 1.000 1 2015 2016
dbSNP: rs455804
rs455804
1 1.000 0.080 21 29773850 intron variant A/C;G snv 0.810 1.000 1 2012 2012
dbSNP: rs4678680
rs4678680
1 1.000 0.080 3 32978543 intergenic variant G/T snv 0.73 0.810 1.000 1 2010 2016
dbSNP: rs9272105
rs9272105
1 0.925 0.120 6 32632222 intron variant G/A snv 0.55 0.810 1.000 1 2012 2015
dbSNP: rs28934571
rs28934571
28 0.645 0.360 17 7674216 missense variant C/A;G snv 0.800 1.000 22 1994 2020
dbSNP: rs1012068
rs1012068
4 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.760 1.000 6 2013 2019
dbSNP: rs2856718
rs2856718
5 0.790 0.360 6 32702478 downstream gene variant C/T snv 0.34 0.750 1.000 5 2012 2017
dbSNP: rs17047200
rs17047200
5 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.740 1.000 4 2017 2019
dbSNP: rs3077
rs3077
15 0.701 0.440 6 33065245 3 prime UTR variant A/G snv 0.29 0.740 0.600 4 2011 2015
dbSNP: rs7453920
rs7453920
7 0.752 0.440 6 32762235 intron variant A/G;T snv 0.740 0.800 4 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 4 2012 2015
dbSNP: rs121913279
rs121913279
62 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.730 1.000 3 2008 2019
dbSNP: rs104886003
rs104886003
43 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.720 1.000 2 2008 2019
dbSNP: rs121912654
rs121912654
19 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.720 1.000 2 2011 2011
dbSNP: rs10272859
rs10272859
3 0.925 0.120 7 90689160 intron variant G/C snv 0.39 0.710 1.000 1 2018 2018
dbSNP: rs121912655
rs121912655
1 0.724 0.400 17 7674238 missense variant C/A;G;T snv 0.710 1.000 1 2004 2016
dbSNP: rs121912656
rs121912656
11 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2012 2016
dbSNP: rs121912666
rs121912666
13 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.710 1.000 1 2016 2019