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: rs7052177
rs7052177
PTCHD1
1 1.000 0.040 X 23356765 intron variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs751945904
rs751945904
NLGN4X
2 0.925 0.040 X 5893158 missense variant G/A snv 1.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs782521991
rs782521991
DNASE1L1 ; RPL10 ; SNORA70
2 0.925 0.040 X 154400848 missense variant C/G snv 3.5E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs79667838
rs79667838
GRPR
3 0.882 0.120 X 16150432 missense variant C/T snv 3.0E-04 4.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs878853147
rs878853147
NLGN3
3 0.925 0.200 X 71169399 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2009 2013
dbSNP: rs1801198
rs1801198
TCN2
26 0.677 0.400 22 30615623 missense variant G/A;C snv 5.6E-05; 0.57 0.020 1.000 2 2018 2019
dbSNP: rs762292772
rs762292772
SHANK3
4 0.882 0.160 22 50721505 frameshift variant G/-;GG delins 0.700 1.000 2 2015 2019
dbSNP: rs1336089966
rs1336089966
SHANK3
1 1.000 0.040 22 50674675 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1555910143
rs1555910143
SHANK3
2 0.925 0.120 22 50721257 frameshift variant CT/- del 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: rs2236624
rs2236624
ADORA2A ; ADORA2A-AS1 ; SPECC1L-ADORA2A
2 0.925 0.200 22 24440056 intron variant T/C snv 0.80 0.010 1.000 1 2010 2010
dbSNP: rs376862893
rs376862893
SHANK3
1 1.000 0.040 22 50683352 missense variant C/T snv 1.1E-04 3.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs4818
rs4818
COMT ; MIR4761
27 0.683 0.440 22 19963684 synonymous variant C/G;T snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs6010065
rs6010065
SHANK3
1 1.000 0.040 22 50719589 intron variant G/C snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs6269
rs6269
COMT ; MIR4761
10 0.827 0.240 22 19962429 5 prime UTR variant A/G snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs731276
rs731276
SEZ6L
1 1.000 0.040 22 26374424 intron variant A/G snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs76224556
rs76224556
SHANK3
1 1.000 0.040 22 50695096 intron variant C/A;T snv 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs767058690
rs767058690
SHANK3
2 0.925 0.040 22 50720865 missense variant G/C;T snv 1.1E-03 0.010 1.000 1 2017 2017
dbSNP: rs769224
rs769224
COMT ; MIR4761
1 1.000 0.040 22 19964281 synonymous variant G/A snv 3.0E-02 4.4E-02 0.010 1.000 1 2013 2013
dbSNP: rs9616915
rs9616915
SHANK3
2 1.000 0.040 22 50679152 missense variant T/C snv 0.43 0.46 0.010 1.000 1 2014 2014
dbSNP: rs1023159
rs1023159
SLC19A1
1 1.000 0.040 21 45546266 intron variant G/A snv 0.34 0.020 1.000 2 2016 2017
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs4141463
rs4141463
MACROD2
3 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.020 1.000 2 2011 2019
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