Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893689
rs104893689
A 0.700 CausalMutation CLINVAR [Percutaneous tenotomy of achilles tendon in the treatment of congenital clubfeet--a preliminary report]. 15751724

2004

dbSNP: rs104893689
rs104893689
A 0.700 CausalMutation CLINVAR In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. 9011580

1997

dbSNP: rs104893689
rs104893689
A 0.700 CausalMutation CLINVAR Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. 8702647

1996

dbSNP: rs104893689
rs104893689
A 0.700 CausalMutation CLINVAR A comparison of the abilities of typical neuroleptic agents and of thioridazine, clozapine, sulpiride and metoclopramide to antagonise the hyperactivity induced by dopamine applied intracerebrally to areas of the extrapyramidal and mesolimbic systems. 791660

1976