Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994097
rs113994097
POLG
0.030 GeneticVariation BEFREE In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland. 20153822

2010
dbSNP: rs113994097
rs113994097
POLG
0.030 GeneticVariation BEFREE We found the W748S mutation in a 65-year-old man with a late-onset syndrome consisting of ataxia, parkinsonism, ophthalmoplegia, peripheral neuropathy, and sensorineural hearing loss. 18321754

2008
dbSNP: rs113994097
rs113994097
POLG
0.030 GeneticVariation BEFREE The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan. 17300808

2007