RS142553916 SLC17A5
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What This Variant Does
"CLNSIG=255
Associated Conditions
Sialic acid storage disease
severe infantile type
Salla disease
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Enhanced S-cone syndrome
Sialic acid storage disease
severe infantile type
Salla disease
Familial hypokalemia-hypomagnesemia
Inborn genetic diseases
Enhanced S-cone syndrome
Other Variants in SLC17A5