RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Disease: LEBER CONGENITAL AMAUROSIS 13 ×
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: rs1239043055
rs1239043055 		0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 1.000 2 2005 2014