LCA5, lebercilin LCA5, 167691

N. diseases: 53; N. variants: 6
Disease: Leber Congenital Amaurosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs766143193
rs766143193 		1.000 0.040 6 79487422 stop gained G/A;T snv 3.2E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs866395428
rs866395428 		1.000 0.040 6 79493633 stop gained G/A snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121918165
rs121918165 		0.925 0.040 6 79493636 stop gained G/A snv 1.2E-04 5.6E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs386834252
rs386834252 		0.925 0.040 6 79489164 frameshift variant G/- delins 4.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs386834253
rs386834253 		0.925 0.040 6 79487621 frameshift variant -/T delins
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0