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: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs1057521223
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		0.700 0