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: rs587776917
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0