rs1060502855, CASR

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
0.710 GeneticVariation BEFREE For example, two FHH-associated mutations (p.Asn178Asp and p.Ser820Ala) impaired Ca2+i signalling without altering ERK phosphorylation. 30052933 2018
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
0.710 GeneticVariation UNIPROT
Familial benign hypercalcemia
CUI: C1809471
Disease: Familial benign hypercalcemia
0.700 GeneticVariation CLINVAR
Hypoparathyroidism - autosomal dominant
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
0.700 GeneticVariation CLINVAR