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: rs368435864
rs368435864
1.000 0.080 15 89318736 missense variant C/A;T snv 1.2E-05; 2.0E-05
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 9 2006 2013