Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs1565532385
UBE4A
0.925 0.080 11 118374964 frameshift variant CA/- del 3
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
rs1565527302
SHANK2
1.000 0.040 11 70485988 frameshift variant TG/- del 1
rs762292772
SHANK3
0.882 0.160 22 50721505 frameshift variant G/-;GG delins 4
rs1564801388
PTEN ; KLLN
1.000 0.040 10 87864353 5 prime UTR variant -/G delins 1
rs1564801473
KLLN ; PTEN
1.000 0.040 10 87864406 5 prime UTR variant -/C delins 1
rs1569305431
IQSEC2
1.000 0.040 X 53254702 frameshift variant G/- delins 1
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
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
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 8
rs863225082
PPP2R5D ; MEA1
0.827 0.160 6 43007265 missense variant G/A snv 7
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
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
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 4
rs797045050
KIF1A
0.807 0.120 2 240797715 missense variant C/T snv 4