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: rs1057524237
rs1057524237
COL11A1
7 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
5 0.882 0.160 1 11144735 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: rs1414334
rs1414334
HTR2C
5 0.851 0.160 X 114903581 intron variant C/G snv 0.010 1.000 1 2010 2010
dbSNP: rs534517447
rs534517447
GRIK4 ; LOC101929208
4 0.925 0.160 11 120956935 missense variant G/A snv 2.9E-05 7.0E-06 0.700 0
dbSNP: rs869312699
rs869312699
GRIK4
4 0.925 0.160 11 120986102 protein altering variant CTGGCGCAGGAGGCC/GCT delins 0.700 0
dbSNP: rs752134549
rs752134549
RSRC2
6 0.827 0.200 12 122517404 missense variant C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs878853165
rs878853165
MAST1 ; HOOK2
6 0.882 0.200 19 12843558 missense variant C/T snv 0.700 0
dbSNP: rs773080572
rs773080572
CNTN6
1 1.000 0.040 3 1295712 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
dbSNP: rs755246809
rs755246809
AHI1
7 0.827 0.280 6 135404951 frameshift variant T/- delins 5.9E-04 4.9E-05 0.700 0
dbSNP: rs1555103646
rs1555103646
GRIN2B
4 1.000 0.040 12 13569964 missense variant C/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: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
11 0.851 0.160 11 1442607 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1554904772
rs1554904772
BRSK2
4 0.882 0.280 11 1443490 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1057518850
rs1057518850
FMR1
2 1.000 0.040 X 147928320 splice acceptor variant A/G snv 0.700 0
dbSNP: rs869312686
rs869312686
HCFC1
5 0.882 0.120 X 153952053 missense variant G/C;T snv 0.700 0
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
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