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: rs1447313633
rs1447313633
ZNF142
4 1.000 2 218649090 frameshift variant TT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1559296368
rs1559296368
ZNF142
4 1.000 2 218646330 frameshift variant C/- del 0.700 1.000 1 2019 2019
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
16 0.790 0.280 8 116847620 inframe deletion GTT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1567368243
rs1567368243
SIN3A
9 0.882 0.040 15 75411651 frameshift variant -/T delins 0.700 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
SCAPER
6 0.882 0.160 15 76574190 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs546151500
rs546151500
ZNF142
5 0.925 0.080 2 218643341 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1553794304
rs1553794304
PIGX ; CEP19
6 0.851 0.160 3 196707860 stop gained -/T delins 0.700 1.000 1 2018 2018
dbSNP: rs1555031372
rs1555031372
DPF2
3 0.925 0.280 11 65345981 missense variant G/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
13 0.827 0.160 17 44212851 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs1562159088
rs1562159088
WASF1
2 1.000 0.040 6 110100644 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1562159562
rs1562159562
WASF1
1 6 110101594 stop gained G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1562159599
rs1562159599
WASF1
1 6 110101628 frameshift variant G/CCTGGC delins 0.700 1.000 1 2018 2018
dbSNP: rs587777161
rs587777161
CLCN4
2 1.000 X 10213734 missense variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs879255580
rs879255580
CLCN4
1 X 10206437 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs879255581
rs879255581
CLCN4
1 X 10206464 missense variant T/C snv 0.700 1.000 1 2018 2018
dbSNP: rs879255582
rs879255582
CLCN4
1 X 10213705 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255583
rs879255583
CLCN4
1 X 10213768 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255584
rs879255584
CLCN4
1 X 10220837 missense variant C/T snv 0.700 1.000 1 2018 2018
dbSNP: rs879255585
rs879255585
CLCN4
1 X 10206756 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs879255586
rs879255586
CLCN4
1 X 10213979 frameshift variant -/A delins 0.700 1.000 1 2018 2018
dbSNP: rs879255590
rs879255590
CLCN4
1 X 10208595 splice region variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1057519565
rs1057519565
DEAF1
9 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1064793829
rs1064793829
GATAD2B
5 0.882 0.160 1 153816571 frameshift variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs113331868
rs113331868
CAMK2A
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017