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: rs1553548194
rs1553548194
SCN1A ; SCN1A-AS1
1.000 0.080 2 166048938 inframe deletion AAT/- delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1553548194
rs1553548194
SCN1A ; SCN1A-AS1
1.000 0.080 2 166048938 inframe deletion AAT/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1553548194
rs1553548194
SCN1A ; SCN1A-AS1
1.000 0.080 2 166048938 inframe deletion AAT/- delins
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0