Source: ALL
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: rs886039254
rs886039254
DEPDC5
1 1.000 0.040 22 31797615 frameshift variant TGAG/- del 0.700 1.000 1 2015 2015
dbSNP: rs886039250
rs886039250
DEPDC5
1 1.000 0.040 22 31783912 frameshift variant TCGTT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs374158137
rs374158137
DEPDC5
1 1.000 0.040 22 31837126 stop gained T/A;C snv 2.4E-05 9.1E-05 0.700 0
dbSNP: rs587776974
rs587776974
DEPDC5
1 1.000 0.040 22 31783911 inframe deletion GTT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1569523728
rs1569523728
DEPDC5
1 1.000 0.040 22 31797616 frameshift variant GA/- delins 0.700 0
dbSNP: rs886039243
rs886039243
DEPDC5
1 1.000 0.040 22 31758545 splice acceptor variant G/C snv 0.700 1.000 1 2014 2014
dbSNP: rs768456731
rs768456731
DEPDC5
2 0.925 0.040 22 31765049 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs1261611694
rs1261611694
DEPDC5
1 1.000 0.040 22 31873333 splice donor variant G/A;C snv 8.0E-06; 4.0E-06 0.700 1.000 2 2013 2013
dbSNP: rs1556526609
rs1556526609
DEPDC5
1 1.000 0.040 22 31766584 splice acceptor variant G/A snv 0.700 1.000 2 2013 2013
dbSNP: rs886039245
rs886039245
DEPDC5
1 1.000 0.040 22 31760703 splice donor variant G/A snv 0.700 1.000 2 2013 2015
dbSNP: rs886039246
rs886039246
DEPDC5
1 1.000 0.040 22 31765061 splice donor variant G/A snv 0.700 1.000 2 2013 2014
dbSNP: rs886039247
rs886039247
DEPDC5
1 1.000 0.040 22 31778120 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs886039249
rs886039249
DEPDC5
1 1.000 0.040 22 31783906 splice acceptor variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs886039252
rs886039252
DEPDC5
1 1.000 0.040 22 31784876 splice donor variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs886039267
rs886039267
DEPDC5
1 1.000 0.040 22 31874410 splice region variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs886039273
rs886039273
DEPDC5
1 1.000 0.040 22 31901763 stop gained G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs587776975
rs587776975
DEPDC5
2 0.925 0.040 22 31893655 stop gained G/A snv 0.700 0
dbSNP: rs1569166925
rs1569166925
DEPDC5
1 1.000 0.040 22 31873316 frameshift variant G/- del 0.700 0
dbSNP: rs886039272
rs886039272
DEPDC5
1 1.000 0.040 22 31897538 frameshift variant G/- delins 0.700 0
dbSNP: rs886039262
rs886039262
DEPDC5
1 1.000 0.040 22 31819101 frameshift variant CTGCATG/- delins 0.700 0
dbSNP: rs1569083500
rs1569083500
DEPDC5
1 1.000 0.040 22 31843705 frameshift variant CTCAGAGTTC/GGACA delins 0.700 0
dbSNP: rs1568963062
rs1568963062
DEPDC5
1 1.000 0.040 22 31806179 frameshift variant CAGG/- delins 0.700 0
dbSNP: rs564667614
rs564667614
DEPDC5
1 1.000 0.040 22 31843170 missense variant C/T snv 1.0E-04 1.4E-04 0.700 1.000 7 2013 2016
dbSNP: rs578244490
rs578244490
DEPDC5
1 1.000 0.040 22 31870720 missense variant C/T snv 8.2E-05 2.8E-05 0.700 1.000 7 2013 2016
dbSNP: rs587776976
rs587776976
DEPDC5
1 1.000 0.040 22 31792765 stop gained C/T snv 0.700 1.000 2 2013 2015