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: rs4132699
rs4132699
SEMA4D
2 0.925 0.120 9 89421512 intron variant A/C snv 0.43 0.800 1.000 2 2012 2017
dbSNP: rs10863790
rs10863790 		1 1.000 0.080 1 209814702 regulatory region variant A/C snv 3.9E-02 0.800 1.000 1 2010 2010
dbSNP: rs4545057
rs4545057
CCDC26
1 1.000 0.080 8 128776888 intron variant A/C snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs6991851
rs6991851
CCDC26
1 1.000 0.080 8 128758142 intron variant A/C snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs4791774
rs4791774
NTN1
4 0.882 0.240 17 9028802 intron variant A/C;G snv 0.710 1.000 2 2015 2019
dbSNP: rs11466285
rs11466285
TGFA
5 0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2197111
rs2197111
CCDC26
1 1.000 0.080 8 129003469 intron variant A/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs2283487
rs2283487 		2 0.925 0.120 16 3919885 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs7566780
rs7566780 		3 0.882 0.120 2 16548089 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs9653456
rs9653456
RANBP2
1 1.000 0.080 2 109029903 intergenic variant A/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs4147812
rs4147812
ABCA4
1 1.000 0.080 1 94109487 intron variant A/C;T snv 0.700 1.000 2 2010 2012
dbSNP: rs1575900
rs1575900 		1 1.000 0.080 13 80102569 intergenic variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs6126344
rs6126344
SALL4
2 0.925 0.120 20 51790963 missense variant A/C;T snv 0.35; 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs7043516
rs7043516
FOXE1
2 1.000 0.080 9 97855151 3 prime UTR variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 1998 2019
dbSNP: rs6072081
rs6072081
LOC102724968
4 0.851 0.120 20 40632414 intergenic variant A/G snv 0.49 0.800 1.000 3 2010 2017
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.030 1.000 3 2010 2012
dbSNP: rs11787407
rs11787407
CCDC26
1 1.000 0.080 8 128973194 intron variant A/G snv 0.48 0.700 1.000 2 2010 2012
dbSNP: rs12094311
rs12094311 		1 1.000 0.080 1 210195791 intergenic variant A/G snv 0.16 0.700 1.000 2 2010 2012
dbSNP: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.020 0.500 2 2011 2013
dbSNP: rs1850889
rs1850889
CCDC26
1 1.000 0.080 8 128878159 intron variant A/G snv 0.72 0.700 1.000 2 2010 2012
dbSNP: rs2485893
rs2485893 		1 1.000 0.080 1 210174810 downstream gene variant A/G snv 0.68 0.700 1.000 2 2010 2012
dbSNP: rs861020
rs861020
IRF6
1 1.000 0.080 1 209803766 intron variant A/G snv 0.82 0.700 1.000 2 2010 2012
dbSNP: rs1038294
rs1038294
COL8A1
2 0.925 0.120 3 99784884 intron variant A/G snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs11119388
rs11119388
SYT14
1 1.000 0.080 1 210001072 intron variant A/G snv 4.4E-02 0.700 1.000 1 2010 2010