Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80359636
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 6 2005 2013
dbSNP: rs142441643
rs142441643
SDHA
0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 4 2010 2017
dbSNP: rs149617956
rs149617956
MITF
0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 4 2011 2016
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 3 2010 2017
dbSNP: rs201431517
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 2 2011 2014
dbSNP: rs1135402760
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 1 2019 2019
dbSNP: rs121909323
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 1 2015 2015
dbSNP: rs1555447569
rs1555447569
SCAPER
0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 1 2017 2017
dbSNP: rs786200963
rs786200963
CACNA1A
0.827 0.200 19 13371683 splice region variant C/T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 1.000 1 2015 2015
dbSNP: rs104894396
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1057518083
rs1057518083
DYNC1H1
0.851 0.120 14 101986552 missense variant C/T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1057519438
rs1057519438
CDK20
0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
0.807 0.160 10 87933128 missense variant C/G;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1085308050
rs1085308050
PTEN
0.827 0.160 10 87933178 frameshift variant -/A delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1085308056
rs1085308056
PTEN
0.851 0.160 10 87957850 splice region variant C/G snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1114167293
rs1114167293
C12orf57
0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1114167295
rs1114167295
MAGED2
0.827 0.160 X 54812169 frameshift variant C/- del
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1114167296
rs1114167296
TMEM47
0.827 0.160 X 34656995 missense variant C/G snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1114167297
rs1114167297
KIF5B
0.851 0.160 10 32019912 missense variant T/C snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1131691299
rs1131691299
DDX3X
0.882 0.160 X 41341587 frameshift variant C/- del
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs1131692232
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs121908216
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0