CHRM3, cholinergic receptor muscarinic 3, 1131

N. diseases: 284; N. variants: 17
Disease: Primary sclerosing cholangitis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4620530
rs4620530
Entrez Id: 1131;100873984
Gene Symbol: CHRM3;CHRM3-AS1
CHRM3;CHRM3-AS1
CUI: C0566602
Disease:
Primary sclerosing cholangitis 		0.010 GeneticVariation BEFREE CHRM3 rs4620530 proportions in patients with PBC significantly differed from patients with PSC (P = 0.005), CHC (P = 0.009), and healthy controls (P = 0.008), primarily due to a substantial overrepresentation of the T allele in PBC (49.3% in PBC vs. 39.8% in PSC, 35.7% in CHC, and 40% in healthy controls), indicating a potential association of the rs4620530 T allele with PBC (OR 1.461, 95% CI 1.147-1.861, P = 0.002). 31747477 2020