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: rs142540948
rs142540948
DEPDC5
1 1.000 0.040 22 31857530 missense variant A/C snv 2.8E-04 1.7E-04 0.700 1.000 7 2013 2016
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: rs754608531
rs754608531
DEPDC5
1 1.000 0.040 22 31857506 missense variant A/C snv 3.7E-05 4.9E-05 0.700 1.000 7 2013 2016
dbSNP: rs1569254004
rs1569254004
DEPDC5
1 1.000 0.040 22 31906047 frameshift variant -/CA delins 0.700 1.000 3 2013 2015
dbSNP: rs541024038
rs541024038
DEPDC5
2 0.925 0.040 22 31843106 stop gained C/G;T snv 4.0E-06 0.700 1.000 3 2013 2016
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: rs587776973
rs587776973
DEPDC5
3 0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 2013 2015
dbSNP: rs587776976
rs587776976
DEPDC5
1 1.000 0.040 22 31792765 stop gained C/T snv 0.700 1.000 2 2013 2015
dbSNP: rs587777459
rs587777459
DEPDC5
3 0.882 0.040 22 31815005 stop gained C/G;T snv 2.0E-05 0.700 1.000 2 2013 2014
dbSNP: rs757511744
rs757511744
DEPDC5
1 1.000 0.040 22 31806168 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 2015 2016
dbSNP: rs768241563
rs768241563
DEPDC5
2 0.925 0.040 22 31754942 stop gained C/G snv 4.0E-06 7.0E-06 0.700 1.000 2 2013 2014
dbSNP: rs772872014
rs772872014
DEPDC5
2 0.925 0.040 22 31792777 stop gained C/T snv 0.700 1.000 2 2014 2016
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: rs886039256
rs886039256
DEPDC5
2 0.925 0.040 22 31798628 stop gained C/G snv 0.700 1.000 2 2015 2015
dbSNP: rs886039269
rs886039269
DEPDC5
2 0.925 0.040 22 31879713 stop gained C/T snv 0.700 1.000 2 2016 2016
dbSNP: rs578185749
rs578185749
DEPDC5
1 1.000 0.040 22 31843199 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs587776974
rs587776974
DEPDC5
1 1.000 0.040 22 31783911 inframe deletion GTT/- delins 0.700 1.000 1 2013 2013
dbSNP: rs587776977
rs587776977
DEPDC5
1 1.000 0.040 22 31802739 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs587777458
rs587777458
DEPDC5
2 0.925 0.040 22 31857548 stop gained C/G;T snv 4.2E-06 0.700 1.000 1 2014 2014
dbSNP: rs780960812
rs780960812
DEPDC5
1 1.000 0.040 22 31821540 stop gained C/T snv 1.6E-05 3.5E-05 0.700 1.000 1 2016 2016
dbSNP: rs786205703
rs786205703
DEPDC5
2 0.925 0.040 22 31778103 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs797044545
rs797044545
DEPDC5
2 0.925 0.040 22 31838683 splice acceptor variant A/G snv 0.700 1.000 1 2014 2014