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: rs1057519438
rs1057519438
0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06
Attention deficit hyperactivity disorder
0.700 0
dbSNP: rs1057519438
rs1057519438
0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs1057519438
rs1057519438
0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.700 0
dbSNP: rs1057519438
rs1057519438
0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior
0.700 0
dbSNP: rs745561217
rs745561217
1.000 9 87969873 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs745561217
rs745561217
1.000 9 87969873 missense variant A/G snv 1.6E-05 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0