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: rs587781276
rs587781276
2 1.000 0.080 16 68823524 stop gained TG/- delins 0.700 1.000 6 2004 2015
dbSNP: rs1567508939
rs1567508939
1 1.000 0.080 16 68815652 frameshift variant TG/- delins 0.700 0
dbSNP: rs1567506511
rs1567506511
1 1.000 0.080 16 68811672 splice acceptor variant TCTTCCAGGAAC/- delins 0.700 1.000 2 2004 2010
dbSNP: rs1060501214
rs1060501214
1 1.000 0.080 16 68810201 frameshift variant TC/- delins 0.700 0
dbSNP: rs786203089
rs786203089
2 1.000 0.080 16 68819425 splice donor variant TAAGGG/- delins 0.700 0
dbSNP: rs1555509623
rs1555509623
2 1.000 0.080 16 68737417 start lost T/C;G snv 0.700 1.000 6 1990 2017
dbSNP: rs587776398
rs587776398
1 1.000 0.080 16 68812149 stop gained T/C;G snv 3.6E-05 0.700 1.000 5 2010 2018
dbSNP: rs1060501237
rs1060501237
1 1.000 0.080 16 68811861 splice donor variant T/C snv 0.700 1.000 2 2004 2010
dbSNP: rs1555515297
rs1555515297
1 1.000 0.080 16 68808850 splice donor variant T/C snv 0.700 0
dbSNP: rs876658944
rs876658944
1 1.000 0.080 16 68828274 stop gained T/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs104894360
rs104894360
14 0.724 0.560 12 25209904 missense variant T/A;C snv 0.700 0
dbSNP: rs876659716
rs876659716
2 1.000 0.080 16 68819283 stop gained T/A;C snv 8.0E-06 0.700 0
dbSNP: rs63750447
rs63750447
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs786203752
rs786203752
2 1.000 0.080 16 68829785 frameshift variant T/- delins 0.700 1.000 2 2013 2015
dbSNP: rs1555517136
rs1555517136
1 1.000 0.080 16 68823562 frameshift variant T/- del 0.700 1.000 1 2015 2015
dbSNP: rs1131690819
rs1131690819
2 1.000 0.080 16 68810229 frameshift variant T/- del 0.700 0
dbSNP: rs1555515731
rs1555515731
4 0.882 0.160 16 68812189 frameshift variant T/- delins 0.700 0
dbSNP: rs1555515739
rs1555515739
2 1.000 0.080 16 68812211 frameshift variant T/- del 0.700 0
dbSNP: rs786202151
rs786202151
2 1.000 0.080 16 68801708 frameshift variant T/- del 0.700 0
dbSNP: rs1555517889
rs1555517889
1 1.000 0.080 16 68829743 frameshift variant GGTATCTTCCCCGCCCTGCC/- delins 0.700 1.000 1 2013 2013
dbSNP: rs587780787
rs587780787
2 1.000 0.080 16 68828296 stop gained G/T snv 4.0E-06 0.700 1.000 9 2004 2014
dbSNP: rs121964876
rs121964876
1 1.000 0.080 16 68738318 stop gained G/T snv 0.700 1.000 2 1999 2000
dbSNP: rs1555518239
rs1555518239
2 1.000 0.080 16 68833356 stop gained G/T snv 0.700 0
dbSNP: rs1567516230
rs1567516230
1 1.000 0.080 16 68829798 splice donor variant G/T snv 0.700 0
dbSNP: rs1385720097
rs1385720097
2 1.000 0.080 16 68828173 splice acceptor variant G/C;T snv 0.700 1.000 2 2004 2010