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 0.010 1.000 1 2014 2014
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2014 2014
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 1.000 1 2005 2005
dbSNP: rs121913479
rs121913479
10 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.800 1.000 1 2005 2005
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.800 1.000 1 2005 2005
dbSNP: rs121913484
rs121913484
5 0.851 0.240 4 1804365 missense variant A/T snv 0.700 1.000 1 2005 2005
dbSNP: rs121913485
rs121913485
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 1 2005 2005
dbSNP: rs1325547001
rs1325547001
2 1.000 0.040 4 1806619 missense variant G/A snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs28931615
rs28931615
13 0.732 0.240 4 1804426 missense variant C/A;T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs727503094
rs727503094
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2014 2014
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.800 1.000 1 2007 2007
dbSNP: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.710 1.000 1 2007 2007
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.800 1.000 1 2007 2007
dbSNP: rs121913281
rs121913281
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 0