RS11546842 POLG

Health Risk Chr 15:89320889 snv missense variant
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Associated Conditions
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
POLG-related disorder
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 1
POLG-related disorder
Population Frequencies
gnomAD ALL
100%
Other Variants in POLG
rs113994099 rs113994095 rs121918044 rs121918045 rs121918046 rs121918048 rs121918049 rs113994098 rs113994094 rs121918047
Ask Dr. Hemsworth about this variant