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: rs1135401744
rs1135401744
14 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs758865880
rs758865880
8 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379
8 0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs1057516045
rs1057516045
LBR
8 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs121908425
rs121908425
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 0
dbSNP: rs1260978141
rs1260978141
8 1.000 0.120 11 103125293 stop gained C/T snv 4.5E-06 0.700 0
dbSNP: rs137853027
rs137853027
15 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
dbSNP: rs1565311145
rs1565311145
7 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
dbSNP: rs1565317399
rs1565317399
6 0.882 0.120 11 103122879 stop gained C/T snv 0.700 0
dbSNP: rs1565329461
rs1565329461
9 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
dbSNP: rs1566883760
rs1566883760
5 0.925 0.120 14 58487978 frameshift variant T/- delins 0.700 0
dbSNP: rs371011047
rs371011047
9 0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 0.700 0
dbSNP: rs376892534
rs376892534
6 0.925 0.120 11 103184880 intron variant G/A snv 8.1E-06 0.700 0
dbSNP: rs747165335
rs747165335
5 0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06 0.700 0
dbSNP: rs752659088
rs752659088
8 0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05 0.700 0
dbSNP: rs753317536
rs753317536
EVC
12 0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs764926983
rs764926983
9 0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 0.700 0
dbSNP: rs767846762
rs767846762
7 0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 0.700 0
dbSNP: rs771148519
rs771148519
9 0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 0.700 0