Source: ALL

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: rs1554270834
rs1554270834
PRPH2
6 42722069 frameshift variant GCTGGGTC/- del
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2014 2014