RS113994048 EIF2B5

Health Risk Chr 3:184136733 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Vanishing white matter disease
Inborn genetic diseases
Leukoencephalopathy with vanishing white matter 1
Leukoencephalopathy with vanishing white matter 5
EIF2B5-related disorder
Vanishing white matter disease
Inborn genetic diseases
Leukoencephalopathy with vanishing white matter 1
Leukoencephalopathy with vanishing white matter 5
EIF2B5-related disorder
Population Frequencies
gnomAD ALL
100%
Other Variants in EIF2B5
rs28939717 rs28937596 rs113994074 rs113994049 rs113994054 rs113994061 rs113994055 rs113994053 rs113994064 rs113994043
Ask Dr. Hemsworth about this variant