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: rs797044546
rs797044546
DEPDC5
2 0.925 0.040 22 31906252 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs879255234
rs879255234
DEPDC5
1 1.000 0.040 22 31804202 frameshift variant A/- del 0.700 1.000 1 2013 2013
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: rs886039244
rs886039244
DEPDC5
1 1.000 0.040 22 31758615 frameshift variant -/C delins 0.700 1.000 1 2015 2015
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: rs886039250
rs886039250
DEPDC5
1 1.000 0.040 22 31783912 frameshift variant TCGTT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886039251
rs886039251
DEPDC5
1 1.000 0.040 22 31783949 stop gained C/T snv 0.700 1.000 1 2016 2016
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: rs886039253
rs886039253
DEPDC5
1 1.000 0.040 22 31792780 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs886039254
rs886039254
DEPDC5
1 1.000 0.040 22 31797615 frameshift variant TGAG/- del 0.700 1.000 1 2015 2015
dbSNP: rs886039255
rs886039255
DEPDC5
2 0.925 0.040 22 31797688 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs886039257
rs886039257
DEPDC5
1 1.000 0.040 22 31802741 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886039258
rs886039258
DEPDC5
1 1.000 0.040 22 31804171 frameshift variant -/GATTTGG delins 0.700 1.000 1 2016 2016
dbSNP: rs886039259
rs886039259
DEPDC5
1 1.000 0.040 22 31804194 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs886039261
rs886039261
DEPDC5
3 0.925 0.040 22 31815101 stop gained C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs886039263
rs886039263
DEPDC5
1 1.000 0.040 22 31819114 stop gained C/T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs886039264
rs886039264
DEPDC5
1 1.000 0.040 22 31838720 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs886039265
rs886039265
DEPDC5
1 1.000 0.040 22 31846858 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs886039266
rs886039266
DEPDC5
2 0.925 0.040 22 31870703 frameshift variant A/- del 0.700 1.000 1 2014 2014
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: rs886039268
rs886039268
DEPDC5
2 0.925 0.040 22 31876262 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs886039270
rs886039270
DEPDC5
1 1.000 0.040 22 31879757 splice region variant A/G snv 8.2E-06 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs886039271
rs886039271
DEPDC5
1 1.000 0.040 22 31893735 frameshift variant C/- del 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