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: rs1553368900
rs1553368900
NRXN1
1 1.000 0.040 2 50925810 splice acceptor variant CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/- del 0.700 1.000 2 2012 2013
dbSNP: rs773080572
rs773080572
CNTN6
1 1.000 0.040 3 1295712 stop gained C/A 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: 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: 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: rs1569485503
rs1569485503
NLGN3
2 1.000 0.040 X 71167697 missense variant C/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: rs879255530
rs879255530
FOXG1
2 0.925 0.160 14 28767832 missense variant A/T snv 0.700 0
dbSNP: rs1553510301
rs1553510301
TBR1
3 0.925 0.040 2 161417794 missense variant T/C snv 0.700 0
dbSNP: rs727504031
rs727504031
NDP ; NDP-AS1
3 0.925 0.200 X 43949981 missense variant G/A snv 0.700 0
dbSNP: rs777843533
rs777843533
ZMIZ1
3 0.925 0.160 10 79307487 frameshift variant -/C delins 0.700 0
dbSNP: rs869312678
rs869312678
TCF20
3 0.925 0.160 22 42209920 frameshift variant CA/- delins 0.700 0
dbSNP: rs1554904772
rs1554904772
BRSK2
4 0.882 0.280 11 1443490 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1085308042
rs1085308042
PTEN
4 0.882 0.120 10 87894076 missense variant G/A snv 0.700 0
dbSNP: rs1085308055
rs1085308055
PTEN
4 0.882 0.120 10 87952240 frameshift variant TCAGT/- delins 0.700 0
dbSNP: rs1555103646
rs1555103646
GRIN2B
4 1.000 0.040 12 13569964 missense variant C/A snv 0.700 0
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: rs766858016
rs766858016
DNMT3A
4 0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06 0.700 0