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: rs371055001
rs371055001
Entrez Id: 2778;149775
Gene Symbol: GNAS;GNAS-AS1
GNAS;GNAS-AS1
CUI: C0008350
Disease:
Cholelithiasis
0.010 GeneticVariation BEFREE A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones. 21823526 2011