GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Enchondroma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1203182324
rs1203182324
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C1704356
Disease:
Enchondroma 		0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376 2008