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: rs749632782
rs749632782
1 1.000 0.280 16 89282336 stop gained G/A;C snv 2.0E-05 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs863225296
rs863225296
1 1.000 0.280 16 89279362 stop gained G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1057518663
rs1057518663
1 1.000 0.280 16 89283420 stop gained G/T snv 0.700 0
dbSNP: rs1064793539
rs1064793539
1 1.000 0.280 16 89283458 stop gained G/T snv 0.700 0
dbSNP: rs1135401804
rs1135401804
1 1.000 0.280 16 89283895 stop gained C/A snv 0.700 0
dbSNP: rs1221781038
rs1221781038
2 0.925 0.280 16 89279695 stop gained G/A;T snv 0.700 0
dbSNP: rs1381957912
rs1381957912
1 1.000 0.280 16 89279872 stop gained C/A;T snv 5.5E-06 0.700 0
dbSNP: rs1555521799
rs1555521799
2 1.000 0.280 16 89270872 missense variant G/T snv 0.700 0
dbSNP: rs1555527929
rs1555527929
1 1.000 0.280 16 89282254 stop gained T/A snv 0.700 0
dbSNP: rs1555528356
rs1555528356
13 0.790 0.360 16 89282836 stop gained G/A snv 0.700 0
dbSNP: rs1555529551
rs1555529551
1 1.000 0.280 16 89284863 stop gained G/C snv 0.700 0
dbSNP: rs1567579525
rs1567579525
1 1.000 0.280 16 89284594 stop gained G/A snv 0.700 0
dbSNP: rs1567583835
rs1567583835
1 1.000 0.280 16 89285650 splice acceptor variant C/G snv 0.700 0
dbSNP: rs749201074
rs749201074
1 1.000 0.280 16 89284565 stop gained G/A;C snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs761636251
rs761636251
1 1.000 0.280 16 89286064 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs761848111
rs761848111
1 1.000 0.280 16 89282980 stop gained G/A snv 0.700 0
dbSNP: rs763407068
rs763407068
2 1.000 0.280 16 89280330 stop gained G/A;C snv 5.6E-05 0.700 0
dbSNP: rs863223319
rs863223319
1 1.000 0.280 16 89274958 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs869312713
rs869312713
6 0.882 0.320 16 89280070 stop gained C/A snv 0.700 0
dbSNP: rs886041791
rs886041791
2 0.925 0.280 16 89284345 stop gained G/A;T snv 0.700 0
dbSNP: rs1567574291
rs1567574291
1 1.000 0.280 16 89283343 frameshift variant AT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs797045027
rs797045027
1 1.000 0.280 16 89284141 frameshift variant CTTT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886039734
rs886039734
1 1.000 0.280 16 89284364 frameshift variant TTGT/- delins 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886041125
rs886041125
12 0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1064794330
rs1064794330
1 1.000 0.280 16 89283315 frameshift variant CTTT/- delins 0.700 0