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: rs1346536
rs1346536 		1 1.000 0.040 5 25915543 downstream gene variant A/G;T snv 0.700 1.000 1 2009 2009
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: 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: 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: rs1718101
rs1718101
CNTNAP2
1 1.000 0.040 7 146425696 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1800561
rs1800561
CD38
7 0.807 0.240 4 15824935 missense variant C/A;T snv 8.0E-06; 4.4E-04 0.010 1.000 1 2015 2015
dbSNP: rs1879532
rs1879532
ERBB4
1 1.000 0.040 2 211574587 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1882260
rs1882260
NLGN4X
2 1.000 0.040 X 5890820 3 prime UTR variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1930165
rs1930165
PCDH15 ; LOC105378311
1 1.000 0.040 10 54542170 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1964081
rs1964081
ZNF385B
1 1.000 0.040 2 179726694 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs201053197
rs201053197
ASMT
1 1.000 0.040 Y 1624367 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs2227283
rs2227283
GRIK2
3 0.882 0.080 6 102055442 missense variant G/A;C;T snv 0.40; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2253031
rs2253031
CNTNAP2
1 1.000 0.040 7 147934809 intron variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2280073
rs2280073
GABRA4
1 1.000 0.040 4 46965556 intron variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs2292305
rs2292305
THBS1 ; FSIP1
4 0.882 0.080 15 39588621 missense variant A/C;G snv 4.0E-06; 0.16 0.010 1.000 1 2014 2014
dbSNP: rs234715
rs234715
CBS
1 1.000 0.040 21 43068285 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2535629
rs2535629
ITIH3
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2736654
rs2736654
GLO1
4 0.882 0.120 6 38682852 missense variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs301434
rs301434
SLC1A1 ; SPATA6L
2 0.925 0.040 9 4582082 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs301979
rs301979
SLC1A1 ; SPATA6L
2 0.925 0.040 9 4576851 intron variant G/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs34808376
rs34808376 		2 0.925 0.040 7 155456016 intron variant -/GC delins 0.010 1.000 1 2010 2010
dbSNP: rs351871
rs351871 		1 1.000 0.040 5 77680214 regulatory region variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs362691
rs362691
RELN
3 0.882 0.120 7 103610714 missense variant G/A;C;T snv 1.2E-05; 0.12 0.010 1.000 1 2013 2013