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: rs113994198
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 1999 2003