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: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs1562171209
rs1562171209
PHIP
9 0.851 0.160 6 79003821 missense variant T/C snv 0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
32 0.708 0.520 7 70766248 missense variant C/T snv 0.700 0
dbSNP: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs1567574466
rs1567574466
ANKRD11
1 1.000 0.040 16 89283404 stop gained A/T snv 0.700 0
dbSNP: rs1567941252
rs1567941252
PCGF2
10 0.807 0.240 17 38739601 missense variant G/A snv 0.700 0
dbSNP: rs1568019012
rs1568019012
LAMA1
13 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
dbSNP: rs1568070621
rs1568070621
BPTF
4 1.000 0.040 17 67918746 frameshift variant AG/- delins 0.700 0
dbSNP: rs1568507354
rs1568507354
RYR1
6 0.827 0.200 19 38502879 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1569149539
rs1569149539
TCF20
3 0.925 0.160 22 42212712 stop gained G/C snv 0.700 0
dbSNP: rs1569151204
rs1569151204
TCF20
2 0.925 0.160 22 42213495 frameshift variant CA/- delins 0.700 0
dbSNP: rs1569525894
rs1569525894
SLC9A6
14 0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 0.700 0
dbSNP: rs267608327
rs267608327
MECP2
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs397514627
rs397514627
CAMK2G
5 0.882 0.160 10 73842486 missense variant C/A;G snv 0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs587784105
rs587784105
NSD1
19 0.732 0.440 5 177235863 stop gained G/A snv 0.700 0
dbSNP: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
dbSNP: rs62643608
rs62643608
CDKL5
3 0.882 0.200 X 18575390 frameshift variant T/- delins 0.700 0
dbSNP: rs757511770
rs757511770
FMN2
9 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs768407867
rs768407867
CHRNA1
3 0.925 0.160 2 174748177 missense variant C/T snv 4.4E-05 3.5E-05 0.700 0
dbSNP: rs794726827
rs794726827
SCN1A ; SCN1A-AS1
6 0.827 0.120 2 166054637 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs796052571
rs796052571
GRIN2B ; LOC105369668
6 0.851 0.040 12 13608755 missense variant C/T snv 0.700 0