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: rs12646351
rs12646351
10 0.790 0.080 4 145819473 intron variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17806780
rs17806780
10 0.790 0.080 4 145811502 intron variant T/C snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs704017
rs704017
10 0.776 0.080 10 79059375 intron variant A/G snv 0.55 0.700 1.000 6 2014 2019
dbSNP: rs1250567
rs1250567
10 0.776 0.080 10 79286508 intron variant T/C snv 0.56 0.700 1.000 1 2019 2019
dbSNP: rs10511330
rs10511330
10 0.776 0.080 3 114402172 intron variant T/C snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs1057520009
rs1057520009
14 0.790 0.200 2 61492337 missense variant C/T snv 4.4E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057520010
rs1057520010
5 0.882 0.200 2 61492336 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1912804
rs1912804
9 0.790 0.080 16 78592686 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12241008
rs12241008
16 0.716 0.160 10 112520943 intron variant T/C snv 0.13 0.700 1.000 3 2014 2019
dbSNP: rs10506868
rs10506868
16 0.716 0.160 10 112559621 intron variant C/T snv 3.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs12246635
rs12246635
10 0.776 0.080 10 112528860 intron variant T/C snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs12255141
rs12255141
9 0.790 0.080 10 112535133 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2008 2008
dbSNP: rs117079142
rs117079142
10 0.776 0.080 8 116778675 intron variant C/A snv 3.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs76316943
rs76316943
9 0.790 0.080 8 116836068 intron variant G/A snv 1.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs11168936
rs11168936
17 0.708 0.280 12 49251457 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs12143541
rs12143541
9 0.790 0.080 1 54782179 intron variant A/G snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs12144319
rs12144319
10 0.776 0.080 1 54780362 3 prime UTR variant T/C snv 0.31 0.700 1.000 1 2019 2019
dbSNP: rs2186607
rs2186607
10 0.776 0.080 11 101785666 intron variant T/A snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 2 2016 2016
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519977
rs1057519977
13 0.763 0.360 17 7675189 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016