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: rs569826109
rs569826109
CERKL
1.000 0.080 2 181604002 missense variant G/A;T snv 5.2E-05; 5.2E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2008 2008