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: rs1554897854
rs1554897854
7 0.790 0.160 10 87931042 splice acceptor variant AGTT/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554897889
rs1554897889
7 0.790 0.160 10 87931094 splice region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554898242
rs1554898242
7 0.790 0.160 10 87933252 splice donor variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554900675
rs1554900675
7 0.790 0.160 10 87952263 splice region variant A/T snv 0.700 1.000 1 2017 2017
dbSNP: rs587781784
rs587781784
8 0.790 0.160 10 87952116 splice acceptor variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs587782455
rs587782455
8 0.790 0.160 10 87960892 splice acceptor variant A/G;T snv 5.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs727504114
rs727504114
8 0.790 0.160 10 87952261 splice donor variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs786203847
rs786203847
8 0.790 0.160 10 87925512 splice acceptor variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1060500126
rs1060500126
8 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 0
dbSNP: rs1114167640
rs1114167640
8 0.790 0.160 10 87961067 stop gained TGACAAAGCAAATA/CGCTT delins 0.700 0
dbSNP: rs121909221
rs121909221
7 0.790 0.160 10 87952135 missense variant T/A snv 0.700 0
dbSNP: rs121909223
rs121909223
8 0.790 0.160 10 87933129 missense variant T/C;G snv 0.700 0
dbSNP: rs121909225
rs121909225
8 0.790 0.160 10 87894049 missense variant T/C;G snv 0.700 0
dbSNP: rs121909226
rs121909226
7 0.790 0.160 10 87925557 missense variant T/C snv 0.700 0
dbSNP: rs121909228
rs121909228
7 0.790 0.160 10 87957984 stop gained G/T snv 0.700 0
dbSNP: rs121909241
rs121909241
8 0.790 0.160 10 87933154 missense variant G/A;T snv 0.700 0
dbSNP: rs1554825165
rs1554825165
7 0.790 0.160 10 87957872 stop gained C/A snv 0.700 0
dbSNP: rs1554825530
rs1554825530
7 0.790 0.160 10 87960957 frameshift variant -/CT;TTCT ins 0.700 0
dbSNP: rs1554825643
rs1554825643
7 0.790 0.160 10 87961107 frameshift variant C/- delins 0.700 0
dbSNP: rs1554898083
rs1554898083
7 0.790 0.160 10 87933057 frameshift variant -/T delins 0.700 0
dbSNP: rs1554898085
rs1554898085
7 0.790 0.160 10 87933061 frameshift variant -/AAACC delins 0.700 0
dbSNP: rs1554898244
rs1554898244
7 0.790 0.160 10 87933253 splice donor variant T/C;G snv 0.700 0
dbSNP: rs397515374
rs397515374
7 0.790 0.160 10 87952159 stop gained TA/AT mnv 0.700 0
dbSNP: rs398123317
rs398123317
8 0.790 0.160 10 87925550 missense variant T/A;C;G snv 0.700 0
dbSNP: rs587776666
rs587776666
7 0.790 0.160 10 87933106 frameshift variant ACAAT/- del 0.700 0