FDXR, ferredoxin reductase, 2232

N. diseases: 103; N. variants: 7
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY ×
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: rs752143061
rs752143061 		1.000 17 74864234 missense variant G/A snv 2.9E-05 4.2E-05
CUI: C4521678
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY
AUDITORY NEUROPATHY AND OPTIC ATROPHY 		0.700 1.000 1 2017 2017
dbSNP: rs1313895172
rs1313895172 		1.000 17 74863166 stop gained G/A;T snv 4.0E-06
CUI: C4521678
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY
AUDITORY NEUROPATHY AND OPTIC ATROPHY 		0.700 0
dbSNP: rs1555620021
rs1555620021 		1.000 17 74864898 missense variant G/C snv
CUI: C4521678
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY
AUDITORY NEUROPATHY AND OPTIC ATROPHY 		0.700 0
dbSNP: rs997026784
rs997026784 		1.000 17 74862864 missense variant C/T snv
CUI: C4521678
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY
AUDITORY NEUROPATHY AND OPTIC ATROPHY 		0.700 0