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: rs11571833
rs11571833
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.720 1.000 3 2015 2019
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.710 1.000 2 2015 2016
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.710 1.000 2 2015 2016
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.700 1.000 3 2012 2016
dbSNP: rs11571818
rs11571818
17 0.708 0.280 13 32394673 intron variant T/C snv 6.6E-03 6.0E-03 0.700 1.000 2 2016 2017
dbSNP: rs121913428
rs121913428
6 0.827 0.120 7 55174015 missense variant G/A;C snv 0.700 1.000 2 2012 2013
dbSNP: rs121913465
rs121913465
11 0.763 0.160 7 55181312 missense variant G/T snv 0.700 1.000 2 2012 2013
dbSNP: rs147680653
rs147680653
17 0.708 0.280 6 29785031 intergenic variant A/G snv 0.700 1.000 2 2016 2017
dbSNP: rs397517097
rs397517097
4 0.851 0.080 7 55174777 missense variant T/C snv 0.700 1.000 2 2012 2013
dbSNP: rs56404467
rs56404467
FRY
17 0.708 0.280 13 32265853 intron variant G/A snv 1.3E-02 0.700 1.000 2 2016 2017
dbSNP: rs1011970
rs1011970
22 0.677 0.320 9 22062135 intron variant G/T snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs10146472
rs10146472
1 1.000 0.080 14 33545815 intron variant A/G snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs10174077
rs10174077
NEB
1 1.000 0.080 2 151625198 intron variant C/T snv 0.35 0.700 1.000 1 2017 2017
dbSNP: rs1023835002
rs1023835002
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
7 0.790 0.160 9 21971019 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894226
rs104894226
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894228
rs104894228
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519789
rs1057519789
1 1.000 0.080 1 162775707 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs1057519790
rs1057519790
1 1.000 0.080 1 162778617 missense variant G/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519791
rs1057519791
1 1.000 0.080 10 121518810 missense variant G/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519877
rs1057519877
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519882
rs1057519882
7 0.807 0.200 9 21974678 missense variant C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519883
rs1057519883
14 0.742 0.280 9 21971120 missense variant C/G;T snv 0.700 1.000 1 2016 2016