Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv 4
rs1569540688
ABCD1 ; BCAP31
0.925 0.240 X 153725586 missense variant T/C snv 4
rs864309661
WDR45
1.000 0.080 X 49077715 inframe deletion CCA/- delins 4
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs1461148946
FLNA
X 154354979 missense variant A/C snv 9.3E-06 3
rs62653623
CDKL5
0.851 0.240 X 18575383 stop gained C/T snv 2
rs797046101
WDR45
0.851 0.280 X 49076469 stop gained G/A snv 2
rs932485786
ARX
1.000 0.040 X 25015654 stop gained G/A;T snv 2
rs1131692040
SNORA70 ; RPL10
0.882 0.160 X 154399844 missense variant A/G snv 1
rs122453114
SLC6A8
1.000 0.120 X 153693586 missense variant G/C snv 1
rs132630298
PHF6
1.000 0.200 X 134393556 missense variant G/T snv 1
rs398122917
CLIC2
0.882 0.080 X 155280059 missense variant G/C snv 4.4E-05 1.1E-04 1
rs56268439
MECP2
1.000 0.080 X 154030639 stop gained C/A;T snv 5.8E-06; 5.8E-06; 2.2E-03 1
rs61748389
MECP2
1.000 0.080 X 154031430 missense variant C/A;T snv 1
rs72554644
ATP7A ; PGK1
1.000 0.160 X 78012885 stop gained G/A;T snv 1
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins 14
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs121908686
PLA2G6 ; BAIAP2L2
0.882 0.120 22 38112558 missense variant C/T snv 9.0E-05 5
rs74315511
NCAPH2 ; SCO2
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 4
rs587776973
DEPDC5
0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06 3
rs886039261
DEPDC5
0.925 0.040 22 31815101 stop gained C/T snv 3
rs1569097392
SHANK3
1.000 22 50676625 stop gained C/T snv 2