CASR, calcium sensing receptor, 846

N. diseases: 517; N. variants: 131
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909264
rs121909264
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C0020626
Disease:
Hypoparathyroidism
A 0.700 CausalMutation CLINVAR Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. 7726161 1995