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: rs1555910143
rs1555910143
SHANK3
2 0.925 0.120 22 50721257 frameshift variant CT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1565527302
rs1565527302
SHANK2
1 1.000 0.040 11 70485988 frameshift variant TG/- del 0.700 1.000 1 2019 2019
dbSNP: rs1567533189
rs1567533189
TSC2
2 0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 0.700 1.000 1 2019 2019
dbSNP: rs1565532385
rs1565532385
UBE4A
3 0.925 0.080 11 118374964 frameshift variant CA/- del 0.700 0
dbSNP: rs878853161
rs878853161
SLC2A1
7 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
dbSNP: rs762292772
rs762292772
SHANK3
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 2 2015 2019
dbSNP: rs1564801388
rs1564801388
PTEN ; KLLN
1 1.000 0.040 10 87864353 5 prime UTR variant -/G delins 0.700 1.000 1 2019 2019
dbSNP: rs1564801473
rs1564801473
PTEN ; KLLN
1 1.000 0.040 10 87864406 5 prime UTR variant -/C delins 0.700 1.000 1 2019 2019
dbSNP: rs1569305431
rs1569305431
IQSEC2
1 1.000 0.040 X 53254702 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs34808376
rs34808376 		2 0.925 0.040 7 155456016 intron variant -/GC delins 0.010 1.000 1 2010 2010
dbSNP: rs6150410
rs6150410 		2 0.925 0.040 7 155454910 intron variant CGCATCCCC/-;CGCATCCCCCGCATCCCC delins 0.28 0.010 1.000 1 2010 2010
dbSNP: rs724159978
rs724159978
RNF135
1 1.000 0.040 17 30998906 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs762735676
rs762735676
NF1
1 1.000 0.040 17 31221945 frameshift variant TTT/-;TTTT delins 6.6E-05 0.700 1.000 1 2019 2019
dbSNP: rs121917893
rs121917893
NLGN3
10 0.807 0.160 X 71167508 missense variant C/T snv 0.080 1.000 8 2004 2019
dbSNP: rs1858830
rs1858830
MET
4 0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 0.070 1.000 7 2007 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 1.000 6 2009 2019
dbSNP: rs1861972
rs1861972
EN2
2 0.925 0.040 7 155461298 intron variant G/A snv 0.72 0.060 1.000 6 2004 2014
dbSNP: rs1861973
rs1861973
EN2
2 0.925 0.040 7 155461450 intron variant T/C snv 0.73 0.040 1.000 4 2005 2014
dbSNP: rs2056202
rs2056202
SLC25A12
4 0.882 0.040 2 171855970 intron variant T/C snv 0.81 0.77 0.040 1.000 4 2008 2017
dbSNP: rs2292813
rs2292813
SLC25A12
3 0.882 0.040 2 171787719 intron variant T/C snv 0.81 0.040 1.000 4 2008 2017
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2009 2013
dbSNP: rs7794745
rs7794745
CNTNAP2
6 0.851 0.040 7 146792514 intron variant A/T snv 0.49 0.040 1.000 4 2010 2019
dbSNP: rs167771
rs167771
DRD3
5 0.827 0.280 3 114157428 intron variant G/A;T snv 0.030 1.000 3 2013 2015
dbSNP: rs2254298
rs2254298
CAV3 ; OXTR
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.030 1.000 3 2008 2019
dbSNP: rs2710102
rs2710102
CNTNAP2
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.030 1.000 3 2011 2019