rs750103665, GNAS

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pseudohypoparathyroidism, Type Ia
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
0.010 GeneticVariation BEFREE Sequencing analysis of the GNAS gene identified a heterozygous missense mutation in exon 13 (R385H), which was previously reported in a PHP-Ia patient. 18250541 2008