Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922442
rs193922442
CASR
0.020 GeneticVariation BEFREE Case presentation We describe the clinical course of a newborn with a de novo R185Q mutation in the calcium-sensing receptor (CASR) gene, causing NSHPT. 30730839

2019
dbSNP: rs193922442
rs193922442
CASR
0.020 GeneticVariation BEFREE The common NHPT CaSR mutants R185Q and R227L were compared with 15 mutants causing only FHH in the heterozygous state. 27666534

2016