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: rs121917893
rs121917893
NLGN3
10 0.807 0.160 X 71167508 missense variant C/T snv 0.090 1.000 9 2004 2019
dbSNP: rs1861972
rs1861972
EN2
2 0.925 0.040 7 155461298 intron variant G/A snv 0.72 0.070 1.000 7 2004 2010
dbSNP: rs1861973
rs1861973
EN2
2 0.925 0.040 7 155461450 intron variant T/C snv 0.73 0.060 1.000 6 2004 2010
dbSNP: rs1566446604
rs1566446604
CHD8
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs2292813
rs2292813
SLC25A12
3 0.882 0.040 2 171787719 intron variant T/C snv 0.81 0.040 1.000 4 2005 2010
dbSNP: rs7794745
rs7794745
CNTNAP2
6 0.851 0.040 7 146792514 intron variant A/T snv 0.49 0.040 0.750 4 2011 2017
dbSNP: rs1064794254
rs1064794254
UPF3B
6 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
dbSNP: rs1555144459
rs1555144459
PKP2
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 1.000 3 2004 2012
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1858830
rs1858830
MET
4 0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 0.030 1.000 3 2009 2010
dbSNP: rs2254298
rs2254298
CAV3 ; OXTR
23 0.701 0.200 3 8760542 intron variant G/A snv 0.16 0.030 1.000 3 2005 2012
dbSNP: rs4141463
rs4141463
MACROD2
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.820 0.667 3 2010 2019
dbSNP: rs1064793345
rs1064793345
PTEN
11 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
dbSNP: rs112795301
rs112795301
FOXP1
13 0.776 0.160 3 70972634 stop gained G/A snv 0.020 1.000 2 2010 2019
dbSNP: rs2217262
rs2217262
DOCK4
1 1.000 0.040 7 112156322 intron variant A/C snv 7.2E-02 0.020 1.000 2 2010 2014
dbSNP: rs2710102
rs2710102
CNTNAP2
12 0.790 0.120 7 147877298 intron variant A/G;T snv 0.020 0.500 2 2011 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2009 2019
dbSNP: rs4307059
rs4307059 		5 0.882 0.080 5 25967594 intron variant T/A;C snv 0.810 1.000 2 2009 2019
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2005 2019
dbSNP: rs7603001
rs7603001
ZNF804A
2 0.925 0.040 2 184902089 intron variant A/G;T snv 0.020 0.500 2 2014 2019
dbSNP: rs10038113
rs10038113 		1 1.000 0.040 5 25902233 intergenic variant T/C snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs10058083
rs10058083 		1 1.000 0.040 5 25894289 intergenic variant G/A snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs1006737
rs1006737
CACNA1C
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs10185592
rs10185592
LOC105373847
1 1.000 0.040 2 205829457 intergenic variant A/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs10205350
rs10205350
GALNT14
1 1.000 0.040 2 30923631 intron variant G/T snv 0.24 0.700 1.000 1 2012 2012