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: rs1553510217
rs1553510217
TBR1
2 1.000 0.040 2 161417083 missense variant A/T snv 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: rs1554777480
rs1554777480
STXBP1
2 9 127666235 missense variant C/G snv 0.700 0
dbSNP: rs1057518928
rs1057518928
SOX5
3 1.000 0.040 12 23665471 missense variant G/A snv 0.700 0
dbSNP: rs1553510301
rs1553510301
TBR1
3 0.925 0.040 2 161417794 missense variant T/C snv 0.700 0
dbSNP: rs730882243
rs730882243
KCTD3
3 1.000 0.120 1 215602099 frameshift variant CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- del 0.700 0
dbSNP: rs121434578
rs121434578
ABAT
5 1.000 0.080 16 8768248 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
5 1.000 0.080 16 8781360 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs724159992
rs724159992
ABAT
5 1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs374259530
rs374259530
ADSL
5 0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05 0.700 0
dbSNP: rs724159990
rs724159990
ABAT
5 1.000 0.080 16 8768220 missense variant C/T snv 0.700 0
dbSNP: rs756210458
rs756210458
ADSL
5 0.925 0.200 22 40354266 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs869025221
rs869025221
RARB
5 0.925 0.080 3 25593603 missense variant G/C snv 0.700 0
dbSNP: rs375761808
rs375761808
ARID1A
6 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1057518887
rs1057518887
SEPSECS
7 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
7 0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 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: rs61749715
rs61749715
MECP2
8 0.851 0.120 X 154031154 missense variant G/A;C snv 0.700 0
dbSNP: rs869025222
rs869025222
RARB
9 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
10 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
dbSNP: rs74315442
rs74315442
CSTB
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs776720232
rs776720232
PGAP3
10 0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 0.700 0
dbSNP: rs869312704
rs869312704
TBR1
10 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 0.700 0
dbSNP: rs1555652383
rs1555652383
BPTF
13 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017