ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Disease: OPTIC ATROPHY 9 ×
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: rs141772938
rs141772938 		1.000 22 41507837 missense variant C/G snv 3.7E-03 3.8E-03
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		0.800 1.000 1 2014 2014
dbSNP: rs752034900
rs752034900 		1.000 22 41527315 missense variant G/A snv 4.0E-06
CUI: C4225384
Disease: OPTIC ATROPHY 9
OPTIC ATROPHY 9 		0.800 1.000 1 2014 2014