RS397514728 CASR
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What This Variant Does
"CLNSIG=5
Associated Conditions
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia
Epilepsy
idiopathic generalized
susceptibility to
8
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia 1
Nephrolithiasis/nephrocalcinosis
CASR-related disorder
Familial hypoparathyroidism
Autosomal dominant hypocalcemia 1
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia
Other Variants in CASR