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: rs121909221
rs121909221
7 0.790 0.160 10 87952135 missense variant T/A snv 0.700 0
dbSNP: rs121909222
rs121909222
7 0.742 0.240 10 87933127 missense variant A/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: 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: rs587776666
rs587776666
7 0.790 0.160 10 87933106 frameshift variant ACAAT/- del 0.700 0
dbSNP: rs587776669
rs587776669
7 0.790 0.160 10 87957914 frameshift variant A/- del 0.700 0
dbSNP: rs587776670
rs587776670
7 0.790 0.160 10 87952211 frameshift variant C/- del 7.0E-06 0.700 0
dbSNP: rs587776671
rs587776671
7 0.790 0.160 10 87864506 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs587776672
rs587776672
7 0.790 0.160 10 87960893 splice acceptor variant G/- delins 0.700 0
dbSNP: rs587776673
rs587776673
7 0.790 0.160 10 87952130 frameshift variant C/- delins 0.700 0
dbSNP: rs587782350
rs587782350
8 0.776 0.160 10 87957955 missense variant C/T snv 0.700 1.000 8 1999 2017
dbSNP: rs1114167621
rs1114167621
8 0.790 0.160 10 87931045 splice acceptor variant G/A;C;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1114167622
rs1114167622
8 0.790 0.160 10 87952260 splice donor variant G/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1114167650
rs1114167650
8 0.790 0.160 10 87925562 splice region variant G/A snv 0.700 1.000 1 2017 2017