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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 2009 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: rs10951154
rs10951154
HOXA1 ; HOTAIRM1
2 0.925 0.040 7 27095695 missense variant C/A;G;T snv 0.76 0.040 0.750 4 2002 2009
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 2005 2010
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: rs113994098
rs113994098
POLG
12 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 3 2002 2011
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: rs2235076
rs2235076
GRIK2
2 0.925 0.080 6 102068385 missense variant G/A snv 1.8E-02 1.7E-02 0.030 1.000 3 2006 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: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 1.000 2 2009 2016
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2009 2016
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: rs4746
rs4746
GLO1
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.020 1.000 2 2011 2014
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: rs751945904
rs751945904
NLGN4X
2 0.925 0.040 X 5893158 missense variant G/A snv 1.1E-05 0.020 1.000 2 2011 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