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: rs10774547
rs10774547 		3 0.925 0.120 12 120424913 intergenic variant T/C snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs11855415
rs11855415
PCSK6 ; PCSK6-AS1
3 1.000 0.120 15 101334918 intron variant A/T snv 0.80 0.700 1.000 1 2011 2011
dbSNP: rs1711745
rs1711745
INIP
3 0.925 0.120 9 112690629 intron variant C/A snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs59197085
rs59197085
CCDC136
3 0.925 0.120 7 128820702 intron variant G/A snv 9.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs5995177
rs5995177
RBFOX2
2 0.925 0.120 22 35913505 intron variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs7182874
rs7182874
PCSK6
2 1.000 0.120 15 101325267 intron variant T/C snv 0.71 0.700 1.000 1 2013 2013
dbSNP: rs9313548
rs9313548 		2 0.925 0.120 5 171534296 TF binding site variant C/T snv 0.56 0.700 1.000 1 2013 2013
dbSNP: rs1178187217
rs1178187217
DNAH11
38 0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
38 0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05 0.700 0
dbSNP: rs3743205
rs3743205
DNAAF4 ; DNAAF4-CCPG1
1 1.000 0.120 15 55498332 5 prime UTR variant C/A;G;T snv 1.3E-05; 4.2E-06; 7.2E-02 0.020 1.000 2 2011 2012
dbSNP: rs57809907
rs57809907
DNAAF4 ; DNAAF4-CCPG1
2 0.925 0.120 15 55430684 stop gained C/A snv 0.10 0.18 0.020 1.000 2 2003 2005
dbSNP: rs6935076
rs6935076
KIAA0319
2 0.925 0.120 6 24644094 intron variant C/T snv 0.30 0.020 1.000 2 2016 2018
dbSNP: rs12533005
rs12533005
FOXP2
2 0.925 0.120 7 114416000 intron variant G/C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs133885
rs133885
MYO18B
2 1.000 0.120 22 25763322 missense variant G/A;C snv 0.55 0.010 < 0.001 1 2015 2015
dbSNP: rs17819126
rs17819126
DNAAF4 ; DNAAF4-CCPG1
1 1.000 0.120 15 55497712 missense variant C/A;T snv 4.2E-06; 4.7E-02 0.010 1.000 1 2010 2010
dbSNP: rs2072403
rs2072403
RELN
1 1.000 0.120 7 103651777 synonymous variant T/C snv 7.5E-02 9.5E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2274305
rs2274305
DCDC2
2 0.925 0.120 6 24290975 missense variant T/C snv 0.65 0.51 0.010 1.000 1 2017 2017
dbSNP: rs2760157
rs2760157
KIAA0319
1 1.000 0.120 6 24578044 intron variant G/A snv 0.28 0.010 < 0.001 1 2014 2014
dbSNP: rs362746
rs362746
RELN ; LOC105375435
2 0.925 0.120 7 103539148 synonymous variant A/G snv 3.8E-02 2.1E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs3756821
rs3756821
KIAA0319
1 1.000 0.120 6 24646593 upstream gene variant C/T snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs3808039
rs3808039
RELN ; LOC101927870
1 1.000 0.120 7 103510989 synonymous variant T/C snv 4.7E-02 4.6E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs397514679
rs397514679
SYN1
9 0.790 0.200 X 47574321 stop gained G/A snv 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: rs600753
rs600753
DNAAF4 ; DNAAF4-CCPG1
1 1.000 0.120 15 55466995 missense variant T/C snv 0.57 0.48 0.010 1.000 1 2019 2019
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