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: rs1557024919
rs1557024919
HUWE1
7 0.925 0.240 X 53634235 splice donor variant C/G snv 0.700 0
dbSNP: rs1566913974
rs1566913974
FBN1
8 0.807 0.200 15 48505029 missense variant A/C snv 0.700 0
dbSNP: rs1567690011
rs1567690011
PRMT7
9 0.882 0.080 16 68337496 frameshift variant AG/- delins 0.700 0
dbSNP: rs1567721991
rs1567721991
PRMT7
9 0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
14 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs200426926
rs200426926
THOC6 ; BICDL2
13 0.776 0.400 16 3027379 missense variant G/A;T snv 1.8E-04; 4.0E-06 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs397507481
rs397507481
BRAF
4 0.882 0.240 7 140754206 missense variant G/C;T snv 0.700 0
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
7 1.000 21 37490273 stop gained C/T snv 0.700 0
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
15 0.827 0.240 21 37486563 stop gained C/T snv 0.700 0
dbSNP: rs724159950
rs724159950
DYRK1A ; LOC105372797
6 1.000 0.200 21 37486571 frameshift variant TGAG/GAA delins 0.700 0
dbSNP: rs724159951
rs724159951
DYRK1A
6 21 37493101 missense variant T/C snv 0.700 0
dbSNP: rs724159952
rs724159952
DYRK1A ; LOC105372797
6 21 37490451 frameshift variant -/G delins 0.700 0
dbSNP: rs724159953
rs724159953
DYRK1A
7 1.000 21 37505352 stop gained C/T snv 0.700 0
dbSNP: rs724159954
rs724159954
DYRK1A ; LOC105372797
6 21 37490353 frameshift variant -/A delins 0.700 0
dbSNP: rs724159955
rs724159955
DYRK1A
6 1.000 21 37512002 missense variant C/A snv 0.700 0
dbSNP: rs724159956
rs724159956
DYRK1A
6 21 37496249 frameshift variant -/G delins 0.700 0
dbSNP: rs748379243
rs748379243
ERCC8
6 0.882 0.200 5 60928961 splice acceptor variant T/A;C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs782393002
rs782393002
HUWE1
6 0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 0.700 0
dbSNP: rs796052505
rs796052505
GABRG2
57 0.724 0.440 5 162095551 missense variant G/A;C snv 0.700 0
dbSNP: rs797044849
rs797044849
GRIN2B
17 0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 0.700 0