RDH12, retinol dehydrogenase 12, 145226

N. diseases: 56; N. variants: 24
Disease: Amaurosis congenita of Leber, type 1 ×
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: rs17852293
rs17852293 		1.000 0.040 14 67727014 missense variant G/A;C snv 0.13; 4.0E-06
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs373032226
rs373032226 		0.925 0.080 14 67727062 missense variant C/T snv 9.5E-05 2.8E-05
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		Eye Diseases 0.010 1.000 1 2007 2007