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: rs1085308050
rs1085308050
PTEN
7 0.827 0.160 10 87933178 frameshift variant -/A delins 0.700 0
dbSNP: rs777843533
rs777843533
ZMIZ1
3 0.925 0.160 10 79307487 frameshift variant -/C delins 0.700 0
dbSNP: rs1553510680
rs1553510680
TBR1
2 1.000 0.040 2 161420241 frameshift variant -/G delins 0.700 0
dbSNP: rs1553511216
rs1553511216
TBR1
2 1.000 0.040 2 161423815 frameshift variant -/GCCCGCAGTC delins 0.700 0
dbSNP: rs869312704
rs869312704
TBR1
10 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
dbSNP: rs1567368243
rs1567368243
SIN3A
9 0.882 0.040 15 75411651 frameshift variant -/T delins 0.700 1.000 1 2019 2019
dbSNP: rs1085308052
rs1085308052
PTEN
5 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 0
dbSNP: rs879253753
rs879253753
ANKRD11
19 0.851 0.280 16 89280526 frameshift variant -/T delins 0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs1085308044
rs1085308044
PTEN ; KLLN
5 0.882 0.120 10 87864504 missense variant A/C snv 0.700 0
dbSNP: rs1057518850
rs1057518850
FMR1
2 1.000 0.040 X 147928320 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
6 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
dbSNP: rs1085308051
rs1085308051
PTEN
6 0.882 0.200 10 87933229 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs786204858
rs786204858
PTEN
11 0.776 0.280 10 87933079 missense variant A/G;T snv 0.700 0
dbSNP: rs1553510217
rs1553510217
TBR1
2 1.000 0.040 2 161417083 missense variant A/T snv 0.700 0
dbSNP: rs879255530
rs879255530
FOXG1
2 0.925 0.160 14 28767832 missense variant A/T snv 0.700 0
dbSNP: rs1553511175
rs1553511175
TBR1
2 1.000 0.040 2 161423547 frameshift variant ACG/CA delins 0.700 0
dbSNP: rs1085308054
rs1085308054
PTEN
7 0.827 0.160 10 87952231 frameshift variant AT/- delins 0.700 0
dbSNP: rs1553510171
rs1553510171
TBR1
2 1.000 0.040 2 161416881 frameshift variant C/- del 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555103646
rs1555103646
GRIN2B
4 1.000 0.040 12 13569964 missense variant C/A snv 0.700 0
dbSNP: rs773080572
rs773080572
CNTN6
1 1.000 0.040 3 1295712 stop gained C/A snv 0.700 0
dbSNP: rs869312696
rs869312696
ASXL3
5 0.882 0.160 18 33739086 stop gained C/A snv 0.700 0
dbSNP: rs869312713
rs869312713
ANKRD11
6 0.882 0.320 16 89280070 stop gained C/A snv 0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0