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: rs1057516037
rs1057516037
HDAC8
4 0.925 X 72464626 protein altering variant TGGAG/AC delins 0.700 1.000 1 2016 2016
dbSNP: rs1557523211
rs1557523211
USP24
1 1 55073913 splice region variant G/A snv 0.700 0
dbSNP: rs1567858976
rs1567858976
PSMD11
1 17 32477518 splice region variant CAGA/- delins 0.700 0
dbSNP: rs181109321
rs181109321
TTPA
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs376253982
rs376253982
KCND1
1 X 48966313 splice region variant C/A snv 2.0E-04 2.1E-04 0.700 0
dbSNP: rs531047390
rs531047390
NRXN3
2 1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05 0.700 0
dbSNP: rs1297383239
rs1297383239
POLR2E
1 19 1091909 splice acceptor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1553763618
rs1553763618
POLR3GL
4 0.925 0.040 1 145977482 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1554643168
rs1554643168
PUF60
7 0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs782661984
rs782661984
POLR3GL
4 0.925 0.040 1 145974824 splice acceptor variant G/A snv 2.3E-05 1.4E-05 0.700 0
dbSNP: rs864309521
rs864309521
CUL7 ; KLC4
2 1.000 0.200 6 43043631 splice acceptor variant C/G snv 0.700 0
dbSNP: rs875989777
rs875989777
CTSA
9 0.851 0.320 20 45894704 frameshift variant AT/- delins 0.700 1.000 3 1996 2014
dbSNP: rs1561873941
rs1561873941
CUL7
10 0.925 0.200 6 43040335 frameshift variant T/- del 0.700 1.000 1 2019 2019
dbSNP: rs1561881909
rs1561881909
CUL7 ; KLC4
9 0.925 0.200 6 43044835 frameshift variant G/- 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: rs527656756
rs527656756
HAAO ; MTA3
21 0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 0.700 1.000 1 2017 2017
dbSNP: rs797044521
rs797044521
DYRK1A ; LOC105372797
8 0.925 21 37480768 frameshift variant A/- delins 0.700 1.000 1 2015 2015
dbSNP: rs797044522
rs797044522
DYRK1A
9 0.925 21 37496119 frameshift variant AGAT/- delins 0.700 1.000 1 2015 2015
dbSNP: rs797044523
rs797044523
DYRK1A ; LOC105372797
9 0.882 21 37480756 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1057518834
rs1057518834
DMD
9 X 32849737 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518939
rs1057518939
VPS13B
9 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
dbSNP: rs1057519334
rs1057519334
NPR2
7 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0