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: rs10509125
rs10509125
ANK3
2 10 60167108 intron variant C/A snv 0.56 0.700 1.000 1 2015 2015
dbSNP: rs1466835565
rs1466835565
HK1
1 10 69368539 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1799920
rs1799920
HTR1A
2 5 63961656 missense variant C/G;T snv 3.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs1799921
rs1799921
HTR1A
2 5 63961638 missense variant T/C snv 9.4E-03 9.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs200754713
rs200754713
PSEN2
2 1 226888954 missense variant A/G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2049161
rs2049161
DLGAP1
2 18 4127583 intron variant A/C;T snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs279827
rs279827
GABRA2
2 4 46332685 splice region variant A/G;T snv 0.44 0.41 0.010 1.000 1 2016 2016
dbSNP: rs35369693
rs35369693
AVPR1B
2 1 206116696 missense variant C/G;T snv 4.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs754747375
rs754747375
HK1
1 10 69369252 missense variant A/G snv 8.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs9983925
rs9983925
ADARB1
4 21 45216929 intron variant C/T snv 0.46 0.010 1.000 1 2015 2015
dbSNP: rs1553510492
rs1553510492
TBR1
4 2 161419040 missense variant A/G snv 0.700 0
dbSNP: rs1554121671
rs1554121671
SYNGAP1
4 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
dbSNP: rs1554776954
rs1554776954
STXBP1
5 1.000 9 127661133 frameshift variant A/- delins 0.700 0
dbSNP: rs1018381
rs1018381
DTNBP1
6 0.882 0.040 6 15656839 intron variant G/A snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs1059004
rs1059004
OLIG2
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1133503
rs1133503
MANEA
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs13438494
rs13438494
PCLO
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs2074898
rs2074898
NDUFS7
3 1.000 0.040 19 1391362 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs2400707
rs2400707
ADRB2
3 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2535629
rs2535629
ITIH3
9 0.827 0.040 3 52799203 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs28939688
rs28939688
OPTN
7 0.807 0.040 10 13109270 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs3915512
rs3915512
DLG1 ; MIR4797
3 1.000 0.040 3 197295369 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4916723
rs4916723
LINC00461
4 0.925 0.040 5 88558577 intron variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs736707
rs736707
RELN ; LOC101927870
6 0.851 0.040 7 103489956 intron variant A/G snv 0.30 0.010 1.000 1 2017 2017