Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 35
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 29
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv 24
rs1085308043
PTEN
0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 12
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 12
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 11
rs863225082
PPP2R5D ; MEA1
0.827 0.160 6 43007265 missense variant G/A snv 7
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs727504317
MAP2K1
0.807 0.320 15 66435145 missense variant G/A snv 6
rs762292772
SHANK3
0.882 0.160 22 50721505 frameshift variant G/-;GG delins 4
rs797045050
KIF1A
0.807 0.120 2 240797715 missense variant C/T snv 4
rs1565532385
UBE4A
0.925 0.080 11 118374964 frameshift variant CA/- del 3
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 3
rs121912562
NR3C2
0.925 0.160 4 148435252 stop gained G/A;C snv 4.0E-06 2
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs1553518509
MBD5
1.000 0.040 2 148468916 stop gained C/T snv 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
rs4307059 0.882 0.080 5 25967594 intron variant T/A;C snv 2
rs4588
GC
0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 2
rs526126
FADS2
1.000 0.040 11 61857413 intron variant G/C;T snv 0.81; 8.0E-06 2
rs870142
STX18-AS1
0.851 0.120 4 4646320 intron variant C/G;T snv 2
rs886037776
EHMT1
0.925 0.280 9 137817477 stop gained G/A snv 2
rs10497655
LOC105373780 ; ZNF804A
1.000 0.040 2 184597314 intron variant T/C;G snv 1
rs1131692040
SNORA70 ; RPL10
0.882 0.160 X 154399844 missense variant A/G snv 1