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: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.050 1.000 5 2017 2019
dbSNP: rs121913471
rs121913471
5 0.807 0.120 17 39724747 missense variant G/A;C;T snv 0.030 0.667 3 2016 2017
dbSNP: rs1057519816
rs1057519816
6 0.763 0.200 17 39711955 missense variant C/A;T snv 0.020 1.000 2 2019 2019
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
484 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs121909644
rs121909644
1 0.925 0.160 8 38413795 missense variant C/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2013 2013
dbSNP: rs121913468
rs121913468
2 0.827 0.160 17 39724008 missense variant G/A;C;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs149860212
rs149860212
1 1.000 16 2074317 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs772092699
rs772092699
3 0.925 0.080 1 22912497 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs780881510
rs780881510
2 0.925 0.080 17 39715299 missense variant A/C snv 1.2E-05 0.010 1.000 1 2000 2000