RS113994012 EIF2B2

Health Risk Chr 14:75005866 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Vanishing white matter disease
See cases
Inborn genetic diseases
EIF2B2-related disorder
Leukoencephalopathy with vanishing white matter 2
Vanishing white matter disease
See cases
Inborn genetic diseases
EIF2B2-related disorder
Leukoencephalopathy with vanishing white matter 2
Population Frequencies
gnomAD ALL
0.1%
Other Variants in EIF2B2
rs104894425 rs104894426 rs104894427 rs104894428 rs113994014 rs397514648 rs767933078 rs766487534 rs766102981 rs756121992
Ask Dr. Hemsworth about this variant