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: rs113994094
rs113994094
0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0036572
Disease: Seizures
Seizures
0.700 1.000 3 2011 2015