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: rs866395428
rs866395428
LCA5
1.000 0.040 6 79493633 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2000 2007
dbSNP: rs866395428
rs866395428
LCA5
1.000 0.040 6 79493633 stop gained G/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.700 1.000 1 2015 2015
dbSNP: rs866395428
rs866395428
LCA5
1.000 0.040 6 79493633 stop gained G/A snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2015 2015