RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
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: rs116733939
rs116733939 		0.925 0.040 14 67727056 missense variant C/T snv 1.6E-05 3.5E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs386834261
rs386834261 		0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs104894470
rs104894470 		0.925 0.040 14 67727097 stop gained C/T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs104894474
rs104894474 		0.882 0.080 14 67726086 stop gained G/T snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.010 1.000 1 2007 2007