Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder) ×
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: rs386834260
rs386834260 		0.925 0.040 1 211481119 splice donor variant C/A;T snv 4.0E-06
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs762631020
rs762631020 		1.000 0.040 1 211481236 stop gained G/A;T snv 4.0E-06
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs786205148
rs786205148 		1.000 0.040 1 211481304 stop gained G/A snv 4.0E-06
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs786205149
rs786205149 		1.000 0.040 1 211481278 frameshift variant TC/- delins
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs786205150
rs786205150 		1.000 0.040 1 211481280 stop gained C/A snv
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		Eye Diseases 0.700 0