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: rs12609735
rs12609735
CACNA1A
1 1.000 0.040 19 13477702 intron variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs12666974
rs12666974
NDUFA5
1 1.000 0.040 7 123551920 intron variant T/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs12690517
rs12690517
ITGA4
1 1.000 0.040 2 181509807 splice region variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs12740765
rs12740765
DAB1
1 1.000 0.040 1 58040631 intron variant C/T snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs1282813621
rs1282813621
UPF3B
3 0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 0.010 1.000 1 2010 2010
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: rs1340513
rs1340513
KDM4C
4 0.882 0.120 9 6977633 intron variant G/A snv 0.75 0.010 1.000 1 2010 2010
dbSNP: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs139747674
rs139747674
PRICKLE2
1 1.000 0.040 3 64157305 missense variant C/T snv 1.3E-03 1.2E-03 0.010 1.000 1 2013 2013
dbSNP: rs140032597
rs140032597
UPF3B
3 0.925 0.200 X 119837923 missense variant C/T snv 6.6E-05 1.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs1409313
rs1409313
CUEDC2
2 1.000 0.040 10 102431844 intron variant T/C snv 0.85 0.010 1.000 1 2019 2019
dbSNP: rs1426217
rs1426217
GABRB3
1 1.000 0.040 15 26575978 intron variant A/G snv 0.46 0.010 < 0.001 1 2018 2018
dbSNP: rs144093574
rs144093574
NLGN4X
1 1.000 0.040 X 5903545 missense variant T/C snv 3.0E-04 2.8E-04 0.010 1.000 1 2009 2009
dbSNP: rs145115468
rs145115468
DUSP15
1 1.000 0.040 20 31862686 missense variant G/A snv 2.2E-04 1.2E-04 0.010 1.000 1 2017 2017
dbSNP: rs1460808228
rs1460808228
PRKCB
4 0.851 0.040 16 24185518 missense variant T/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1475617034
rs1475617034
RIMS1
1 1.000 0.040 6 72182348 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1517342
rs1517342
STK39
1 1.000 0.040 2 168159163 intron variant T/C snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs155100
rs155100
ITGA4
1 1.000 0.040 2 181485360 intron variant T/A snv 0.59 0.010 1.000 1 2009 2009
dbSNP: rs155806
rs155806
PCDHA9 ; PCDHAC2 ; PCDHAC1 ; PCDHA13 ; PCDHA12 ; PCDHA11 ; PCDHA10 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
2 1.000 0.040 5 140970255 intron variant A/G snv 8.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1625579
rs1625579
MIR137HG
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs167771
rs167771
DRD3
5 0.827 0.280 3 114157428 intron variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs16859788
rs16859788
GABRA4
1 1.000 0.040 4 46969992 intron variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs16976358
rs16976358
LINC00907
6 0.827 0.080 18 42611606 intron variant T/C snv 1.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs17119271
rs17119271
PCDHA9 ; PCDHAC1 ; PCDHA13 ; PCDHA12 ; PCDHA11 ; PCDHA10 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1 1.000 0.040 5 140930121 3 prime UTR variant T/C snv 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs17119346
rs17119346
PCDHA9 ; PCDHAC2 ; PCDHAC1 ; PCDHA13 ; PCDHA12 ; PCDHA11 ; PCDHA10 ; PCDHA8 ; PCDHA7 ; PCDHA6 ; PCDHA5 ; PCDHA4 ; PCDHA3 ; PCDHA2 ; PCDHA1
1 1.000 0.040 5 140994249 intron variant G/A snv 0.29 0.010 1.000 1 2013 2013