rs1057521223, SCN2A

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
Hyperkinesia
CUI: C3887506
Disease: Hyperkinesia
6 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 1.000 0.040 2 165373339 stop gained G/A;T snv 0.700 0