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: rs1163276899
rs1163276899
CACNA1D
2 1.000 0.040 3 53673125 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs11795613
rs11795613
NLGN3
2 0.925 0.120 X 71147478 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1206846668
rs1206846668
FOLH1
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs121912562
rs121912562
NR3C2
2 0.925 0.160 4 148435252 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1229030855
rs1229030855
TIMELESS
4 0.925 0.080 12 56428321 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
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: rs1331320684
rs1331320684
CNTN4
1 1.000 0.040 3 2988415 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1336089966
rs1336089966
SHANK3
1 1.000 0.040 22 50674675 missense variant C/T snv 0.010 1.000 1 2012 2012
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: rs1396313317
rs1396313317
CNTNAP2 ; LOC107986721
1 1.000 0.040 7 147562137 splice acceptor variant G/A;C snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1553518509
rs1553518509
MBD5
2 1.000 0.040 2 148468916 stop gained C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1555910143
rs1555910143
SHANK3
2 0.925 0.120 22 50721257 frameshift variant CT/- del 0.700 1.000 1 2019 2019
dbSNP: rs1561824498
rs1561824498
MEF2C
1 1.000 0.040 5 88752044 splice acceptor variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1564801388
rs1564801388
PTEN ; KLLN
1 1.000 0.040 10 87864353 5 prime UTR variant -/G delins 0.700 1.000 1 2019 2019
dbSNP: rs1564801473
rs1564801473
PTEN ; KLLN
1 1.000 0.040 10 87864406 5 prime UTR variant -/C delins 0.700 1.000 1 2019 2019
dbSNP: rs1564950387
rs1564950387
DEAF1
1 1.000 0.040 11 687909 splice donor variant A/C snv 0.700 1.000 1 2019 2019
dbSNP: rs1565527302
rs1565527302
SHANK2
1 1.000 0.040 11 70485988 frameshift variant TG/- del 0.700 1.000 1 2019 2019
dbSNP: rs1567533189
rs1567533189
TSC2
2 0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del 0.700 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: rs1569513495
rs1569513495
SBF1
1 1.000 0.040 22 50465238 stop gained C/A snv 0.700 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 < 0.001 1 2016 2016
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: rs193024911
rs193024911
SYN2
1 1.000 0.040 3 12151259 missense variant A/C;G snv 2.0E-05; 1.0E-04 0.010 1.000 1 2014 2014