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: rs4446909
rs4446909
ASMT
2 0.925 0.040 Y 1614890 upstream gene variant G/A snv 0.020 1.000 2 2008 2013
dbSNP: rs5989681
rs5989681
ASMT
1 1.000 0.040 Y 1614999 upstream gene variant G/A;C snv 0.020 1.000 2 2008 2013
dbSNP: rs2535443
rs2535443
XG
1 1.000 0.040 Y 2770501 intron variant T/A;C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs121917893
rs121917893
NLGN3
10 0.807 0.160 X 71167508 missense variant C/T snv 0.080 1.000 8 2004 2019
dbSNP: rs397514679
rs397514679
SYN1
9 0.790 0.200 X 47574321 stop gained G/A snv 0.020 1.000 2 2015 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: rs11795613
rs11795613
NLGN3
2 0.925 0.120 X 71147478 intron variant A/G snv 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: rs141441277
rs141441277
SYTL4
5 0.882 0.120 X 100689933 missense variant G/A snv 5.6E-04 3.8E-04 0.010 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: rs1799836
rs1799836
MAOB
7 0.790 0.160 X 43768752 intron variant T/A;C snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs1801291
rs1801291
MAOA
2 1.000 0.040 X 43744144 synonymous variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs2232365
rs2232365
FOXP3
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs2283727
rs2283727
MAOB
1 1.000 0.040 X 43773697 intron variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs28934908
rs28934908
MECP2
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2007 2007
dbSNP: rs3027407
rs3027407
MAOA
3 0.925 0.040 X 43745594 3 prime UTR variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs3747333
rs3747333
NLGN4X
3 0.925 0.040 X 5893491 missense variant G/A;C;T snv 7.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs3747334
rs3747334
NLGN4X
3 0.925 0.040 X 5893489 synonymous variant G/A;C;T snv 1.2E-05; 6.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs3761548
rs3761548
FOXP3
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs4844285
rs4844285
NLGN3
2 0.925 0.120 X 71150394 intron variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs4844286
rs4844286
NLGN3
1 1.000 0.040 X 71151724 intron variant T/G snv 0.010 1.000 1 2011 2011
dbSNP: rs561077
rs561077
GPR50
4 0.882 0.080 X 151181177 missense variant A/G snv 0.43 0.45 0.010 1.000 1 2010 2010
dbSNP: rs587777457
rs587777457
MAOA
3 0.925 0.200 X 43731695 missense variant G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs61753971
rs61753971
MECP2
2 0.925 0.120 X 154030546 missense variant C/T snv 1.3E-04 1.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs6323
rs6323
MAOA
7 0.807 0.040 X 43731789 synonymous variant G/T snv 0.65 0.010 1.000 1 2014 2014