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: rs875989800
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0