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: rs1259560536
rs1259560536
ADAM33
1 1.000 0.040 20 3671756 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1384093596
rs1384093596
DYRK2
1 1.000 0.040 12 67657500 missense variant C/T snv 0.700 0
dbSNP: rs1402272180
rs1402272180
AKT3
1 1.000 0.040 1 243637661 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1466858740
rs1466858740
PRKCB
1 1.000 0.040 16 24180881 missense variant G/A snv 0.700 0
dbSNP: rs1567176006
rs1567176006
SLX4
1 1.000 0.040 16 3602208 frameshift variant CT/- del 0.700 0
dbSNP: rs17855787
rs17855787
PDK2
1 1.000 0.040 17 50109341 missense variant G/A snv 0.700 0
dbSNP: rs371854396
rs371854396
PINK1
1 1.000 0.040 1 20638098 missense variant C/G;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs375412266
rs375412266
MAPKAPK3
1 1.000 0.040 3 50617647 missense variant C/G;T snv 2.1E-04; 4.1E-06 0.700 0
dbSNP: rs757496714
rs757496714
TRIB3
1 1.000 0.040 20 388189 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs770462360
rs770462360
CDC42BPG
1 1.000 0.040 11 64839070 missense variant G/A snv 2.0E-05 0.700 0
dbSNP: rs779221554
rs779221554
GUCY2F
1 1.000 0.040 X 109430395 missense variant C/A;T snv 0.700 0
dbSNP: rs11548193
rs11548193
BCAT2
2 0.925 0.040 19 48799813 missense variant G/A;C snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs11558961
rs11558961
GFAP
2 0.925 0.040 17 44907319 3 prime UTR variant G/C;T snv 0.27; 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs1161136341
rs1161136341
HDAC9
2 0.925 0.080 7 18591621 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs11670188
rs11670188
BTBD2
2 0.925 0.040 19 2014038 non coding transcript exon variant A/G snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs1210653597
rs1210653597
CDKN2A
2 0.925 0.120 9 21968756 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs2291427
rs2291427
ALOX5
2 0.925 0.040 10 45440776 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3829382
rs3829382
FLT3
2 0.925 0.040 13 28003551 3 prime UTR variant G/T snv 0.46 0.010 1.000 1 2013 2013
dbSNP: rs7325927
rs7325927
FAM155A ; FAM155A-IT1
2 0.925 0.040 13 107823165 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs759927375
rs759927375
H3C1 ; H4C1
2 0.925 0.040 6 26020589 missense variant G/A;C snv 1.2E-05; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs7732320
rs7732320
SSBP2
2 0.925 0.040 5 81423306 intron variant C/T snv 0.22 0.700 1.000 1 2012 2012
dbSNP: rs774238794
rs774238794
HDAC9
2 0.925 0.080 7 18644690 missense variant G/A;T snv 4.1E-05; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs863225401
rs863225401
MSH6 ; FBXO11
4 0.925 0.040 2 47799866 stop gained G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs879254044
rs879254044
MSH2
3 0.925 0.040 2 47475148 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs8957
rs8957
SLC2A4RG
2 0.925 0.040 20 63742354 missense variant G/T snv 0.71 0.78 0.010 1.000 1 2017 2017