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: rs1057518913
rs1057518913
EHMT1
7 0.851 0.320 9 137762822 splice donor variant T/C snv 0.700 0
dbSNP: rs1555454508
rs1555454508
SPG11
18 0.790 0.240 15 44615487 stop gained GTA/ATC mnv 0.700 0
dbSNP: rs1557136818
rs1557136818
MECP2
4 0.925 0.120 X 154031259 missense variant C/T snv 0.700 0
dbSNP: rs200119628
rs200119628
RTN4R ; LOC105372864
1 1.000 0.040 22 20241938 missense variant G/A snv 3.0E-04 2.4E-04 0.700 0
dbSNP: rs748655075
rs748655075
RTN4R ; LOC105372864
1 1.000 0.040 22 20242004 missense variant G/A snv 4.5E-05 2.8E-05 0.700 0
dbSNP: rs779384862
rs779384862
RTN4R ; LOC105372864
1 1.000 0.040 22 20242003 missense variant C/G;T snv 7.8E-05 0.700 0
dbSNP: rs797045205
rs797045205
ABCA13
1 1.000 0.040 7 48387961 splice donor variant T/C snv 4.3E-06 1.4E-05 0.700 0
dbSNP: rs875989808
rs875989808
SYNGAP1
3 0.925 0.160 6 33444529 missense variant C/T snv 0.700 0
dbSNP: rs16887244
rs16887244
LSM1
1 1.000 0.040 8 38173827 intron variant A/G snv 0.20 0.810 1.000 1 2011 2011
dbSNP: rs7527939
rs7527939
HHAT
1 1.000 0.040 1 210362681 intron variant C/T snv 0.30 0.810 1.000 1 2013 2013
dbSNP: rs10429924
rs10429924 		1 1.000 0.040 1 244227262 intergenic variant C/T snv 8.8E-02 0.800 1.000 1 2012 2012
dbSNP: rs10789369
rs10789369 		1 1.000 0.040 1 73359226 downstream gene variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs10894294
rs10894294 		1 1.000 0.040 11 130960853 intergenic variant C/A;G snv 0.800 1.000 1 2012 2012
dbSNP: rs11064768
rs11064768
CCDC60
1 1.000 0.040 12 119380704 intron variant A/G snv 5.6E-02 0.800 1.000 1 2009 2009
dbSNP: rs11532322
rs11532322
C12orf65
1 1.000 0.040 12 123246876 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs11995572
rs11995572
LOC105375629 ; LOC105375630
1 1.000 0.040 8 88579854 intron variant G/T snv 0.25 0.800 1.000 1 2013 2013
dbSNP: rs12071951
rs12071951 		1 1.000 0.040 1 96648359 intergenic variant T/G snv 0.27 0.800 1.000 1 2012 2012
dbSNP: rs12140439
rs12140439 		1 1.000 0.040 1 177753772 intron variant C/A snv 0.24 0.800 1.000 1 2013 2013
dbSNP: rs1261117
rs1261117
TCF4
1 1.000 0.040 18 55282426 intron variant T/C snv 0.11 0.800 1.000 1 2013 2013
dbSNP: rs12922317
rs12922317
SNX29
1 1.000 0.040 16 11983775 intron variant A/G snv 0.33 0.800 1.000 1 2014 2014
dbSNP: rs1538774
rs1538774
SDCCAG8
1 1.000 0.040 1 243381525 intron variant C/G snv 0.78 0.800 1.000 1 2013 2013
dbSNP: rs16915157
rs16915157
ANK3
1 1.000 0.040 10 60586880 intron variant C/T snv 0.19 0.800 1.000 1 2012 2012
dbSNP: rs17206232
rs17206232 		1 1.000 0.040 5 65137573 regulatory region variant C/A;T snv 0.800 1.000 1 2012 2012
dbSNP: rs17504622
rs17504622 		1 1.000 0.040 5 153274919 intergenic variant C/T snv 2.5E-02 0.800 1.000 1 2013 2013
dbSNP: rs17594526
rs17594526
TCF4
1 1.000 0.040 18 55391007 intron variant C/T snv 6.4E-02 0.800 1.000 1 2009 2009