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: rs10038113
rs10038113 		1 1.000 0.040 5 25902233 intergenic variant T/C snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs10058083
rs10058083 		1 1.000 0.040 5 25894289 intergenic variant G/A snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs1006737
rs1006737
CACNA1C
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs10185592
rs10185592
LOC105373847
1 1.000 0.040 2 205829457 intergenic variant A/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs10205350
rs10205350
GALNT14
1 1.000 0.040 2 30923631 intron variant G/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs10239799
rs10239799 		1 1.000 0.040 7 120765281 intergenic variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs10489525
rs10489525
CSDE1
1 1.000 0.040 1 114721064 intron variant G/A snv 0.32 0.800 1.000 1 2014 2014
dbSNP: rs10498676
rs10498676
ELOVL2
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs10500171
rs10500171
CNTNAP2
1 1.000 0.040 7 147183313 intron variant A/G snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs10513025
rs10513025 		1 1.000 0.040 5 9623510 non coding transcript exon variant T/C snv 5.4E-02 0.800 1.000 1 2009 2009
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 2015 2015
dbSNP: rs1053972
rs1053972
KLK3
1 1.000 0.040 19 50855373 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1057518345
rs1057518345
ADNP
25 0.742 0.400 20 50894172 frameshift variant ACTA/- delins 0.700 0
dbSNP: rs1057518658
rs1057518658
SCN2A
1 1.000 0.040 2 165331409 frameshift variant AC/- del 0.700 0
dbSNP: rs1057518993
rs1057518993
IQSEC2
1 1.000 0.040 X 53243367 stop gained G/A snv 0.700 0
dbSNP: rs1057518999
rs1057518999
FOXP1
1 1.000 0.040 3 70977826 splice donor variant A/G snv 0.700 0
dbSNP: rs1057519440
rs1057519440
GSPT2
3 1.000 0.040 X 51744647 missense variant G/A snv 0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
5 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1060826
rs1060826
NOS2
4 0.851 0.160 17 27762841 synonymous variant T/C snv 0.66 0.67 0.010 1.000 1 2009 2009
dbSNP: rs1064793345
rs1064793345
PTEN
11 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
dbSNP: rs1064794245
rs1064794245
ADSL
1 1.000 0.040 22 40349918 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs1064794254
rs1064794254
UPF3B
6 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
dbSNP: rs10732392
rs10732392
LMX1B
1 1.000 0.040 9 126633758 intron variant A/G snv 0.84 0.010 1.000 1 2011 2011
dbSNP: rs10749886
rs10749886 		1 1.000 0.040 11 107129809 intergenic variant G/A snv 0.35 0.700 1.000 1 2012 2012