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: rs762292772
rs762292772
SHANK3
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 2 2015 2019
dbSNP: rs779867
rs779867
GRM7
9 0.776 0.120 3 7442784 intron variant T/C;G snv 0.020 1.000 2 2013 2016
dbSNP: rs10230087
rs10230087
FOXP2
2 1.000 0.040 7 114614352 intron variant G/A snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs10418707
rs10418707
DNMT1
1 1.000 0.040 19 10145541 intron variant G/A;T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10423341
rs10423341
DNMT1
1 1.000 0.040 19 10156590 intron variant C/A snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs10497655
rs10497655
ZNF804A ; LOC105373780
2 1.000 0.040 2 184597314 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10498676
rs10498676
ELOVL2
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1051312
rs1051312
SNAP25 ; SNAP25-AS1
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs10877969
rs10877969
AVPR1A
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs11155819
rs11155819
ESR1
1 1.000 0.040 6 151878224 intron variant T/C snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs11236697
rs11236697
SHANK2
1 1.000 0.040 11 70576391 intron variant T/C snv 4.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1131692040
rs1131692040
RPL10 ; SNORA70
4 0.882 0.160 X 154399844 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1152582
rs1152582
ESR2 ; SYNE2
1 1.000 0.040 14 64225912 3 prime UTR variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1163276899
rs1163276899
CACNA1D
2 1.000 0.040 3 53673125 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs11639084
rs11639084
RORA
4 0.851 0.200 15 60774317 intron variant C/T snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs11787216
rs11787216 		2 1.000 0.040 8 141605122 intron variant C/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs11795613
rs11795613
NLGN3
2 0.925 0.120 X 71147478 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1186689
rs1186689
KCNJ9 ; KCNJ10
1 1.000 0.040 1 160053263 intron variant G/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs12531289
rs12531289
FOXP2
2 1.000 0.040 7 114600061 intron variant T/A snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs12603582
rs12603582
ITGB3
2 1.000 0.040 17 47300211 intron variant G/T snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs1276905604
rs1276905604
GLRA2
1 1.000 0.040 X 14581319 missense variant A/G snv 9.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs12826786
rs12826786 		26 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 0.010 1.000 1 2020 2020
dbSNP: rs13000344
rs13000344 		2 0.925 0.040 2 63062599 downstream gene variant T/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs13294439
rs13294439 		2 1.000 0.040 9 23358877 intron variant A/C snv 0.32 0.700 1.000 1 2019 2019