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: rs1563765580
rs1563765580
RUNX1T1
1 8 92017274 frameshift variant -/A ins 0.700 0
dbSNP: rs1561873941
rs1561873941
CUL7
10 0.925 0.200 6 43040335 frameshift variant T/- del 0.700 1.000 1 2019 2019
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
dbSNP: rs1565191262
rs1565191262
FAM111B
4 1.000 0.080 11 59125559 frameshift variant T/- del 0.700 0
dbSNP: rs1569148952
rs1569148952
H2AP ; SYTL5
1 X 37991160 frameshift variant TG/- del 0.700 0
dbSNP: rs1569162748
rs1569162748
OFD1
7 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0
dbSNP: rs782144677
rs782144677
CHD1L ; LINC00624
1 1 147285398 frameshift variant A/- del 2.8E-05 2.1E-05 0.700 0
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 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: rs1057516037
rs1057516037
HDAC8
4 0.925 X 72464626 protein altering variant TGGAG/AC delins 0.700 1.000 1 2016 2016
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: rs760929207
rs760929207
OBSL1
12 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
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: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1057519370
rs1057519370
NF1
7 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
dbSNP: rs1085307139
rs1085307139
PUF60 ; SCRIB
5 0.925 0.040 8 143817380 frameshift variant -/C delins 0.700 0
dbSNP: rs1158061584
rs1158061584
N4BP2L2
1 13 32443086 frameshift variant T/-;TT delins 0.700 0