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: rs1414334
rs1414334
HTR2C
5 0.851 0.160 X 114903581 intron variant C/G snv 0.020 < 0.001 2 2014 2015
dbSNP: rs2299225
rs2299225
GRM3
1 1.000 0.040 7 86818264 intron variant T/G snv 2.3E-02 0.020 < 0.001 2 2005 2008
dbSNP: rs4654748
rs4654748
NBPF3
3 1.000 0.040 1 21459575 intron variant C/T snv 0.38 0.020 < 0.001 2 2018 2018
dbSNP: rs1000731
rs1000731
DISC1 ; TSNAX-DISC1 ; LOC105373170
1 1.000 0.040 1 231827745 intron variant C/T snv 0.23 0.010 < 0.001 1 2018 2018
dbSNP: rs10046055
rs10046055 		1 1.000 0.040 5 157890009 regulatory region variant T/A snv 0.32 0.010 < 0.001 1 2006 2006
dbSNP: rs10314
rs10314
CLDN5
1 1.000 0.040 22 19523195 3 prime UTR variant C/G snv 0.15 0.010 < 0.001 1 2004 2004
dbSNP: rs1045881
rs1045881
NRXN1
1 1.000 0.040 2 49921834 3 prime UTR variant C/T snv 0.15 0.010 < 0.001 1 2011 2011
dbSNP: rs11097431
rs11097431
PDLIM5
2 0.925 0.040 4 94585691 synonymous variant G/A snv 0.18 0.22 0.010 < 0.001 1 2013 2013
dbSNP: rs112638127
rs112638127
NRXN1
1 1.000 0.040 2 50472460 missense variant T/C snv 4.0E-05 4.2E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs1128397
rs1128397
GFRA2
1 1.000 0.040 8 21693288 missense variant A/T snv 0.38 0.38 0.010 < 0.001 1 2010 2010
dbSNP: rs1130214
rs1130214
AKT1
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 < 0.001 1 2010 2010
dbSNP: rs11608185
rs11608185
DRD2
1 1.000 0.040 11 113424254 intron variant T/C snv 0.45 0.010 < 0.001 1 2009 2009
dbSNP: rs117992169
rs117992169
PDCD11
1 1.000 0.040 10 103425101 missense variant G/A snv 1.8E-03 6.9E-04 0.010 < 0.001 1 2017 2017
dbSNP: rs11847866
rs11847866
AKT1
1 1.000 0.040 14 104788868 intron variant G/A snv 0.30 0.010 < 0.001 1 2010 2010
dbSNP: rs11859266
rs11859266
HAGH
1 1.000 0.040 16 1813980 intron variant C/A;G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1231813088
rs1231813088
HHEX
4 0.851 0.160 10 92690015 missense variant C/T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs12601930
rs12601930
PPP1R1B
2 1.000 0.040 17 39633179 non coding transcript exon variant C/T snv 1.6E-02 0.010 < 0.001 1 2008 2008