Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913294
rs121913294
PTEN
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs1553510171
rs1553510171
TBR1
2 1.000 0.040 2 161416881 frameshift variant C/- del 0.700 0
dbSNP: rs1553510217
rs1553510217
TBR1
2 1.000 0.040 2 161417083 missense variant A/T snv 0.700 0
dbSNP: rs1553510280
rs1553510280
TBR1
2 1.000 0.040 2 161417690 frameshift variant GTTTTAA/- delins 0.700 0
dbSNP: rs1553510301
rs1553510301
TBR1
3 0.925 0.040 2 161417794 missense variant T/C snv 0.700 0
dbSNP: rs1553510313
rs1553510313
TBR1
2 1.000 0.040 2 161417827 stop gained C/T snv 0.700 0
dbSNP: rs1553510385
rs1553510385
TBR1
2 1.000 0.040 2 161418249 stop gained G/A snv 0.700 0
dbSNP: rs1553510680
rs1553510680
TBR1
2 1.000 0.040 2 161420241 frameshift variant -/G delins 0.700 0
dbSNP: rs1553511175
rs1553511175
TBR1
2 1.000 0.040 2 161423547 frameshift variant ACG/CA delins 0.700 0
dbSNP: rs1553511216
rs1553511216
TBR1
2 1.000 0.040 2 161423815 frameshift variant -/GCCCGCAGTC delins 0.700 0
dbSNP: rs1553511226
rs1553511226
TBR1
2 1.000 0.040 2 161423830 frameshift variant GC/- delins 0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1554893835
rs1554893835
PTEN
8 0.827 0.240 10 87894110 splice donor variant G/C;T snv 0.700 0
dbSNP: rs1555103646
rs1555103646
GRIN2B
4 1.000 0.040 12 13569964 missense variant C/A snv 0.700 0
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
13 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
dbSNP: rs1560092224
rs1560092224
ZBTB20
5 0.925 0.040 3 114339276 missense variant T/A snv 0.700 0
dbSNP: rs1564365418
rs1564365418
GRIN1
5 0.882 0.120 9 137163846 missense variant G/T snv 0.700 0
dbSNP: rs1569110700
rs1569110700
TCF20
5 0.925 0.080 22 42179633 missense variant G/A snv 0.700 0
dbSNP: rs1569485503
rs1569485503
NLGN3
2 1.000 0.040 X 71167697 missense variant C/T snv 0.700 0
dbSNP: rs1569509136
rs1569509136
HUWE1
24 0.708 0.400 X 53647576 splice acceptor variant T/C snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs372392424
rs372392424
PIGG
8 0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05 0.700 0
dbSNP: rs387906271
rs387906271
CHD7
11 0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0