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: rs4504469
rs4504469
KIAA0319
1 1.000 0.120 6 24588656 missense variant C/G;T snv 1.6E-05; 0.33 0.030 1.000 3 2005 2016
dbSNP: rs2274305
rs2274305
DCDC2
2 0.925 0.120 6 24290975 missense variant T/C snv 0.65 0.51 0.020 1.000 2 2016 2017
dbSNP: rs12899331
rs12899331
DNAAF4
1 1.000 0.120 15 55508896 upstream gene variant A/G snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs140717774
rs140717774
CEP63
1 1.000 0.120 3 134545716 missense variant G/A;T snv 6.0E-05; 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs146011974
rs146011974
NCAN
1 1.000 0.120 19 19233884 missense variant G/A;T snv 1.4E-04; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs16979358
rs16979358
DIP2A
1 1.000 0.120 21 46547064 3 prime UTR variant C/A;T snv 0.13 0.010 < 0.001 1 2016 2016
dbSNP: rs17031962
rs17031962
GNPTAB
1 1.000 0.120 12 101752780 intron variant C/T snv 1.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs201605
rs201605
MYH3
1 1.000 0.120 17 10663547 upstream gene variant T/C snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs2074130
rs2074130
DOCK4
1 1.000 0.120 7 111847042 missense variant C/T snv 1.8E-02 7.9E-03 0.010 1.000 1 2016 2016
dbSNP: rs2235371
rs2235371
IRF6
11 0.752 0.360 1 209790735 missense variant C/T snv 8.7E-02 3.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs2255526
rs2255526
DIP2A
1 1.000 0.120 21 46551626 splice region variant G/A snv 0.71 0.75 0.010 1.000 1 2016 2016
dbSNP: rs28366021
rs28366021
NCDN ; KIAA0319L
1 1.000 0.120 1 35557258 5 prime UTR variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3212236
rs3212236 		1 1.000 0.120 6 24648227 upstream gene variant T/C snv 0.22 0.010 1.000 1 2006 2006
dbSNP: rs349045
rs349045
LYPD5
1 1.000 0.120 19 43795740 intron variant T/C snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs3779031
rs3779031
CNTNAP2
1 1.000 0.120 7 148229642 splice region variant A/G snv 0.22 0.18 0.010 1.000 1 2018 2018
dbSNP: rs4599626
rs4599626
DCDC2
2 0.925 0.120 6 24341129 intron variant C/A snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs4791774
rs4791774
NTN1
4 0.882 0.240 17 9028802 intron variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs6456593
rs6456593
DCDC2
2 0.925 0.120 6 24174101 3 prime UTR variant C/G snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs6922023
rs6922023
DCDC2
2 0.925 0.120 6 24347889 intron variant G/A snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs6935076
rs6935076
KIAA0319
2 0.925 0.120 6 24644094 intron variant C/T snv 0.30 0.010 1.000 1 2005 2005
dbSNP: rs6980093
rs6980093
FOXP2
1 1.000 0.120 7 114522685 intron variant G/A snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs7523017
rs7523017
KIAA0319L
2 0.925 0.120 1 35549410 intron variant G/A snv 4.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs761100
rs761100
KIAA0319
1 1.000 0.120 6 24632414 intron variant A/C snv 0.61 0.010 1.000 1 2006 2006
dbSNP: rs779153680
rs779153680
CTNND2
1 1.000 0.120 5 10988165 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs793842
rs793842
DCDC2
1 1.000 0.120 6 24224260 intron variant T/A;C snv 0.010 1.000 1 2019 2019