Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs1131692040
SNORA70 ; RPL10
0.882 0.160 X 154399844 missense variant A/G snv 1
rs1569305431
IQSEC2
1.000 0.040 X 53254702 frameshift variant G/- delins 1
rs397514679
SYN1
0.790 0.200 X 47574321 stop gained G/A snv 1
rs587777457
MAOA
0.925 0.200 X 43731695 missense variant G/T snv 1
rs61753971
MECP2
0.925 0.120 X 154030546 missense variant C/T snv 1.3E-04 1.1E-04 1
rs782521991
RPL10 ; DNASE1L1 ; SNORA70
0.925 0.040 X 154400848 missense variant C/G snv 3.5E-05 2.8E-05 1
rs878853147
NLGN3
0.925 0.200 X 71169399 missense variant C/T snv 1
rs762292772
SHANK3
0.882 0.160 22 50721505 frameshift variant G/-;GG delins 4
rs1555910143
SHANK3
0.925 0.120 22 50721257 frameshift variant CT/- del 2
rs1569513495
SBF1
1.000 0.040 22 50465238 stop gained C/A snv 1
rs4141463
MACROD2
0.925 0.040 20 14766825 intron variant T/C snv 0.50 1
rs16976358
LINC00907
0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 1
rs4130047
RIT2
0.925 0.080 18 43098270 intron variant T/A;C snv 1
rs2898883
PHB
1.000 0.040 17 49405591 intron variant G/A snv 0.23 2
rs724159978
RNF135
1.000 0.040 17 30998906 frameshift variant G/- delins 1
rs762735676
NF1
1.000 0.040 17 31221945 frameshift variant TTT/-;TTTT delins 6.6E-05 1
rs1567533189
TSC2
0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 2
rs796053483
TSC2
1.000 0.040 16 2060775 missense variant C/G snv 7.0E-06 1
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv 6
rs1800692
TNFRSF1A
0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71 1
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 1
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 3