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: 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 2014
dbSNP: rs397514679
rs397514679
SYN1
9 0.790 0.200 X 47574321 stop gained G/A snv 0.020 1.000 2 2015 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2009 2013
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: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs1163276899
rs1163276899
CACNA1D
2 1.000 0.040 3 53673125 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs12037377
rs12037377
TFB2M
2 1.000 0.040 1 246551218 missense variant G/A snv 3.2E-03 1.6E-03 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121917893
rs121917893
NLGN3
10 0.807 0.160 X 71167508 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
14 0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03 0.010 1.000 1 2013 2013
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: rs1275980031
rs1275980031
RELN
2 1.000 0.040 7 103540259 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
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: rs1350135
rs1350135
FOXP2
2 1.000 0.040 7 114602621 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1414334
rs1414334
HTR2C
5 0.851 0.160 X 114903581 intron variant C/G snv 0.010 1.000 1 2010 2010
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: rs1799793
rs1799793
ERCC2
72 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2016 2016
dbSNP: rs1801291
rs1801291
MAOA
2 1.000 0.040 X 43744144 synonymous variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1804197
rs1804197
APC
2 1.000 0.040 5 112844212 3 prime UTR variant C/A snv 7.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs199473391
rs199473391
CACNA1C
2 1.000 0.040 12 2607117 stop gained G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs201551401
rs201551401
GPR37
3 0.925 0.040 7 124746694 missense variant C/T snv 6.4E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs2061183
rs2061183
FOXP2
2 1.000 0.040 7 114617959 intron variant C/G snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs2168351
rs2168351
ST8SIA2
6 0.851 0.120 15 92440492 intron variant A/G snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs2279357
rs2279357
CYP11A1
5 0.851 0.160 15 74338282 intron variant T/C snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs237902
rs237902
CAV3 ; OXTR
3 0.925 0.040 3 8767498 synonymous variant G/A snv 0.29 0.31 0.010 1.000 1 2018 2018