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: rs121918735
rs121918735
SCN1A ; SCN1A-AS1
1.000 0.040 2 166051906 missense variant G/A;T snv 3.2E-05
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 1.000 1 2003 2017
dbSNP: rs121918735
rs121918735
SCN1A ; SCN1A-AS1
1.000 0.040 2 166051906 missense variant G/A;T snv 3.2E-05
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0