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: rs1553510385
rs1553510385
TBR1
2 1.000 0.040 2 161418249 stop gained G/A 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: 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: rs869312704
rs869312704
TBR1
10 0.882 0.160 2 161423752 frameshift variant -/GGCTGCA 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: rs387906686
rs387906686
SCN2A
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
6 0.882 0.080 2 165313738 frameshift variant T/- delins 0.700 0
dbSNP: rs886039903
rs886039903
FGF12
6 0.807 0.200 3 192335434 missense variant C/T snv 0.700 0
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2020 2020
dbSNP: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 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
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs879255530
rs879255530
FOXG1
2 0.925 0.160 14 28767832 missense variant A/T snv 0.700 0
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.700 0
dbSNP: rs869312696
rs869312696
ASXL3
5 0.882 0.160 18 33739086 stop gained C/A snv 0.700 0
dbSNP: rs1554297905
rs1554297905
RALA
6 0.882 0.160 7 39686740 missense variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1569110700
rs1569110700
TCF20
5 0.925 0.080 22 42179633 missense variant G/A snv 0.700 0
dbSNP: rs869312678
rs869312678
TCF20
3 0.925 0.160 22 42209920 frameshift variant CA/- delins 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: rs1555582065
rs1555582065
UBTF ; LOC101926967
13 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0
dbSNP: rs1553368900
rs1553368900
NRXN1
1 1.000 0.040 2 50925810 splice acceptor variant CACAATCCAGAAACCAACAAATGTTCAGAAAGAAGTTCAACTTACCATCTAACTTCAAGATGTACCCTATTAGTACTAAGAAATAAAGGACAAATGAGAGTTGGAAAAATAAGGTAGAAAGCACCCACCTTCCACATTGTTGTCTTCTGAAAGCACATGACAAGGAGGGAGAGAAAAGGAAAAACATTCATTAAGCAGCATGCAGACTGGACCTTGCCTTTGCATGTCTTCCTCATGCAAGGCACCAAACACATCATGCAAGTGCTCCATCACTATCATTCAAGGGGGAAAACAAAATCACAGGGAAGCAGGTTCCCTCCCATTGGCAGCATTGATAGGAAGTGAGACAAACTTTCATAATACTGCCATGCCCTGTGCAAAGAGTTTTTAAAAAAATCTTTCAACTACCCAGTATAAAGCAAACATTATTGTTATTACATGTTGCTGGTG/- del 0.700 1.000 2 2012 2013
dbSNP: rs863225094
rs863225094
PPP2R1A
10 0.827 0.160 19 52213076 missense variant G/A snv 0.700 0