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: rs1554641549
rs1554641549
PUF60 ; SCRIB
3 0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 0.700 0
dbSNP: rs1554643142
rs1554643142
PUF60
4 0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 0.700 0
dbSNP: rs1555257073
rs1555257073
POMP
25 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
46 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
dbSNP: rs1558939623
rs1558939623
CHN1
19 0.732 0.480 2 174824479 missense variant C/T snv 0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
10 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1563595095
rs1563595095
CHD7
10 0.776 0.320 8 60781285 frameshift variant AA/T delins 0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
16 0.882 0.080 10 28614666 stop gained C/T 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: rs200661329
rs200661329
PIGQ
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
19 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
dbSNP: rs527624522
rs527624522
EXT2
5 0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 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