Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs2388334 0.882 0.040 6 98143746 intron variant A/G snv 0.39 5
rs1452075
CADPS
1.000 0.040 3 62495388 intron variant C/T snv 0.73 4
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
rs10741657
CYP2R1
0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 3
rs1565532385
UBE4A
0.925 0.080 11 118374964 frameshift variant CA/- del 3
rs11787216 1.000 0.040 8 141605122 intron variant C/T snv 0.26 2
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs13294439 1.000 0.040 9 23358877 intron variant A/C snv 0.32 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
rs2898883
PHB
1.000 0.040 17 49405591 intron variant G/A snv 0.23 2
rs4307059 0.882 0.080 5 25967594 intron variant T/A;C snv 2
rs7341475
RELN
0.851 0.240 7 103764368 intron variant G/A snv 0.17 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