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: rs1569012755
rs1569012755
DEPDC5
1 1.000 0.040 22 31821566 frameshift variant -/A delins 0.700 0
dbSNP: rs886039244
rs886039244
DEPDC5
1 1.000 0.040 22 31758615 frameshift variant -/C delins 0.700 1.000 1 2015 2015
dbSNP: rs1569254004
rs1569254004
DEPDC5
1 1.000 0.040 22 31906047 frameshift variant -/CA delins 0.700 1.000 3 2013 2015
dbSNP: rs886039258
rs886039258
DEPDC5
1 1.000 0.040 22 31804171 frameshift variant -/GATTTGG delins 0.700 1.000 1 2016 2016
dbSNP: rs879255234
rs879255234
DEPDC5
1 1.000 0.040 22 31804202 frameshift variant A/- del 0.700 1.000 1 2013 2013
dbSNP: rs886039257
rs886039257
DEPDC5
1 1.000 0.040 22 31802741 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886039264
rs886039264
DEPDC5
1 1.000 0.040 22 31838720 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs886039266
rs886039266
DEPDC5
2 0.925 0.040 22 31870703 frameshift variant A/- del 0.700 1.000 1 2014 2014
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: 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: rs797044545
rs797044545
DEPDC5
2 0.925 0.040 22 31838683 splice acceptor variant A/G snv 0.700 1.000 1 2014 2014
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: rs757609394
rs757609394
DEPDC5
1 1.000 0.040 22 31857483 missense variant A/G snv 3.3E-05 0.700 0
dbSNP: rs886039248
rs886039248
DEPDC5
1 1.000 0.040 22 31778139 frameshift variant AT/- del 0.700 0
dbSNP: rs886039271
rs886039271
DEPDC5
1 1.000 0.040 22 31893735 frameshift variant C/- del 0.700 1.000 1 2016 2016
dbSNP: rs1568955379
rs1568955379
DEPDC5
1 1.000 0.040 22 31804211 frameshift variant C/- delins 0.700 0
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: rs886039256
rs886039256
DEPDC5
2 0.925 0.040 22 31798628 stop gained C/G snv 0.700 1.000 2 2015 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: 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: 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: 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: rs886039260
rs886039260
DEPDC5
1 1.000 0.040 22 31810589 stop gained C/G;T snv 8.0E-06 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