RS139417576 CASR

Health Risk Chr 3:122284190 snv missense variant
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Associated Conditions
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis
CASR-related disorder
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Nephrolithiasis/nephrocalcinosis
CASR-related disorder
Population Frequencies
gnomAD ALL
0%
1kG AFR
99.8%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in CASR
rs121909258 rs121909259 rs104893689 rs121909260 rs28936684 rs104893690 rs869320729 rs121909261 rs104893691 rs104893694
Ask Dr. Hemsworth about this variant