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: rs28929495
rs28929495
9 0.807 0.120 7 55174014 missense variant G/A;C;T snv 0.720 1.000 3 2016 2018
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.710 1.000 2 2016 2020
dbSNP: rs121913229
rs121913229
2 0.925 0.080 7 55174785 missense variant G/C snv 4.0E-06 0.700 1.000 2 2005 2014
dbSNP: rs121913428
rs121913428
6 0.827 0.120 7 55174015 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs139429793
rs139429793
4 0.925 0.120 7 55155928 missense variant G/A snv 1.6E-05 1.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs150036236
rs150036236
3 0.925 0.080 7 55191741 missense variant G/A snv 4.8E-05 3.5E-05 0.700 1.000 1 2010 2010
dbSNP: rs1554350382
rs1554350382
1 1.000 0.040 7 55181318 protein altering variant -/GTC ins 0.700 0
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.100 1.000 58 2005 2020
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.100 1.000 58 2005 2020
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.100 1.000 58 2005 2020
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 1.000 45 2006 2020
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.060 1.000 6 2008 2016
dbSNP: rs121913465
rs121913465
11 0.763 0.160 7 55181312 missense variant G/T snv 0.050 1.000 5 2006 2018
dbSNP: rs397517108
rs397517108
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.050 1.000 5 2006 2018
dbSNP: rs397517096
rs397517096
4 0.851 0.120 7 55174776 missense variant TT/CC mnv 0.020 1.000 2 2015 2019
dbSNP: rs1032737355
rs1032737355
2 0.925 0.080 7 55170434 missense variant T/A snv 0.010 1.000 1 2018 2018
dbSNP: rs104886026
rs104886026
4 0.851 0.080 7 55200333 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1050171
rs1050171
6 0.851 0.120 7 55181370 missense variant G/A;C snv 0.52; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1051753269
rs1051753269
7 0.790 0.120 7 55174029 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1171516758
rs1171516758
1 1.000 0.040 7 55142377 synonymous variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913418
rs121913418
3 0.882 0.160 7 55174818 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs146795390
rs146795390
8 0.827 0.080 7 55191776 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs147149347
rs147149347
2 0.925 0.080 7 55181314 missense variant G/A;C;T snv 2.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs201061916
rs201061916
1 1.000 0.040 7 55165388 missense variant G/A snv 2.0E-05 1.4E-05 0.010 1.000 1 2018 2018