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: 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: rs13166776
rs13166776 		1 1.000 0.040 5 25971247 intron variant T/C snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs13176113
rs13176113 		1 1.000 0.040 5 25900331 intergenic variant G/A snv 0.28 0.700 1.000 1 2009 2009
dbSNP: rs13187934
rs13187934 		1 1.000 0.040 5 25902259 intergenic variant C/T snv 0.28 0.700 1.000 1 2009 2009
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: rs1346536
rs1346536 		1 1.000 0.040 5 25915543 downstream gene variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1408744
rs1408744 		1 1.000 0.040 6 23789887 intergenic variant A/G snv 0.63 0.700 1.000 1 2012 2012
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: rs14135
rs14135
MACROD2 ; MACROD2-AS1
1 1.000 0.040 20 14884510 non coding transcript exon variant T/C snv 0.26 0.700 1.000 1 2012 2012
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: rs1429793
rs1429793
NELL1 ; LOC105376585
1 1.000 0.040 11 20904710 intron variant G/C;T snv 0.700 1.000 1 2013 2013
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: rs1475531
rs1475531
MACROD2 ; MACROD2-AS1
1 1.000 0.040 20 14886776 intron variant G/T snv 0.62 0.700 1.000 1 2012 2012
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: rs16919315
rs16919315
TMEM132B
1 1.000 0.040 12 125599817 intron variant C/A;G;T snv 0.700 1.000 1 2012 2012
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: rs17007739
rs17007739 		1 1.000 0.040 4 83920097 intron variant T/G snv 0.38 0.700 1.000 1 2012 2012
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