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: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs1553920379
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs387906846
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs529855742
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs587776625
rs587776625
ADGRG1
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs606231193
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs875989800
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs879253767
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0