TXNRD1, thioredoxin reductase 1, 7296

N. diseases: 136; N. variants: 21
Disease: Mitochondrial Diseases ×
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: rs368849022
rs368849022 		12 104327633 synonymous variant T/C snv 1.2E-04 9.8E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010