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: rs1553510171
rs1553510171
TBR1
2 1.000 0.040 2 161416881 frameshift variant C/- del 0.700 0
dbSNP: rs1553510280
rs1553510280
TBR1
2 1.000 0.040 2 161417690 frameshift variant GTTTTAA/- delins 0.700 0
dbSNP: rs1553510303
rs1553510303
TBR1
1 2 161417795 stop gained G/A;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: rs1553510492
rs1553510492
TBR1
4 2 161419040 missense variant A/G 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: rs1555910162
rs1555910162
SHANK3
5 0.925 0.080 22 50721469 frameshift variant -/C delins 0.700 0
dbSNP: rs1559759089
rs1559759089
ATP6V1A
14 0.827 0.200 3 113795101 missense variant C/A snv 0.700 0
dbSNP: rs1560092224
rs1560092224
ZBTB20
5 0.925 0.040 3 114339276 missense variant T/A snv 0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
16 0.882 0.080 10 28614666 stop gained C/T snv 0.700 0
dbSNP: rs1565532385
rs1565532385
UBE4A
3 0.925 0.080 11 118374964 frameshift variant CA/- del 0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
dbSNP: rs267608327
rs267608327
MECP2
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
dbSNP: rs367814475
rs367814475
IVD
9 0.925 0.080 15 40415482 missense variant G/C;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs397507483
rs397507483
BRAF
13 0.790 0.400 7 140753348 missense variant C/A;T snv 0.700 0
dbSNP: rs762713626
rs762713626
TBR1
2 1.000 0.040 2 161420222 missense variant C/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs869312704
rs869312704
TBR1
10 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
dbSNP: rs886040958
rs886040958
ARID1B
4 1.000 0.280 6 157207395 frameshift variant CC/- delins 0.700 0
dbSNP: rs886041045
rs886041045
SMARCA2
5 1.000 0.280 9 2086854 missense variant A/G snv 0.700 0