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: rs867384286
rs867384286
14 0.732 0.240 4 152328233 missense variant G/A;C snv 4.3E-06 0.700 1.000 1 2016 2016
dbSNP: rs867262025
rs867262025
10 0.790 0.360 3 179221146 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs866987936
rs866987936
12 0.752 0.240 4 152326214 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs866775781
rs866775781
17 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs80338963
rs80338963
11 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs778985185
rs778985185
5 0.851 0.160 7 55163734 missense variant G/A snv 8.0E-06 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs772110575
rs772110575
7 0.807 0.160 3 179198938 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs759610249
rs759610249
8 0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs753660142
rs753660142
19 0.708 0.280 17 7673782 missense variant T/C;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs749415085
rs749415085
7 0.807 0.160 3 179198937 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
21 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs747241612
rs747241612
12 0.752 0.240 4 152326215 missense variant G/C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs730882005
rs730882005
20 0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587780071
rs587780071
15 0.732 0.240 17 7674951 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs587777894
rs587777894
9 0.776 0.240 1 11124516 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587777790
rs587777790
14 0.732 0.280 3 179199690 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs398124146
rs398124146
12 0.742 0.360 16 3738617 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs397517201
rs397517201
16 0.732 0.240 3 179218307 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs377767347
rs377767347
14 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs371769427
rs371769427
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2017 2017
dbSNP: rs28931588
rs28931588
17 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs149680468
rs149680468
15 0.742 0.320 4 152326137 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121917759
rs121917759
8 0.790 0.480 11 533466 missense variant G/A snv 0.700 1.000 1 2016 2016