Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs870142
STX18-AS1
0.851 0.120 4 4646320 intron variant C/G;T snv 2
rs16835979
STX18-AS1
0.851 0.120 4 4633549 intron variant C/A snv 0.20 1
rs6824295
STX18-AS1
0.851 0.120 4 4612553 intron variant C/T snv 0.20 1
rs7794745
CNTNAP2
0.851 0.040 7 146792514 intron variant A/T snv 0.49 1
rs2388334 0.882 0.040 6 98143746 intron variant A/G snv 0.39 5
rs762292772
SHANK3
0.882 0.160 22 50721505 frameshift variant G/-;GG delins 4
rs4307059 0.882 0.080 5 25967594 intron variant T/A;C snv 2
rs1131692040
SNORA70 ; RPL10
0.882 0.160 X 154399844 missense variant A/G snv 1
rs3756963
ELOVL2
0.882 0.200 6 11021921 intron variant T/C snv 0.24 1
rs1565532385
UBE4A
0.925 0.080 11 118374964 frameshift variant CA/- del 3
rs121912562
NR3C2
0.925 0.160 4 148435252 stop gained G/A;C snv 4.0E-06 2
rs1555910143
SHANK3
0.925 0.120 22 50721257 frameshift variant CT/- del 2
rs1567533189
TSC2
0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 2
rs2230365
NFKBIL1
0.925 0.160 6 31557671 synonymous variant C/T snv 0.16 0.13 2
rs886037776
EHMT1
0.925 0.280 9 137817477 stop gained G/A snv 2
rs10498676
ELOVL2
0.925 0.040 6 11026766 intron variant G/A snv 0.18 1
rs121908445
CNTNAP2
0.925 0.040 7 148147542 missense variant T/C snv 3.3E-04 1.7E-04 1
rs1800692
TNFRSF1A
0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71 1
rs1858830
MET
0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 1
rs4130047
RIT2
0.925 0.080 18 43098270 intron variant T/A;C snv 1
rs4141463
MACROD2
0.925 0.040 20 14766825 intron variant T/C snv 0.50 1
rs4534
GML ; CYP11B1
0.925 0.240 8 142879686 missense variant C/T snv 8.4E-02 4.1E-02 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