GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913495
rs121913495
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
CUI: C0034013
Disease:
Precocious Puberty
0.010 GeneticVariation BEFREE Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. 17101633 2006