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: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.100 1.000 12 2013 2019
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 1.000 12 2013 2019
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 1.000 12 2013 2019
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.070 1.000 7 2014 2018
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.050 1.000 5 2016 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.050 1.000 5 2016 2019
dbSNP: rs372043866
rs372043866
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.020 1.000 2 2014 2018
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121913236
rs121913236
4 0.882 0.160 12 25245321 missense variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs8187710
rs8187710
6 0.827 0.200 10 99851537 missense variant G/A snv 5.3E-02 8.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 1.000 1 2010 2010