Gene: TWNK ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758026634
rs758026634
TWNK ; MRPL43
0.010 GeneticVariation BEFREE Autosomal dominant progressive external ophthalmoplegia due to the p.R357P PEO1 mutation is a late-onset ocular myopathy beginning with ptosis and progressing slowly. 24018892

2013