Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs231775
rs231775
CTLA4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.050 GeneticVariation BEFREE This study indicated that the polymorphisms of rs231775 and rs231725 would be the risk factors of PBC. 28642883

2017
dbSNP: rs231775
rs231775
CTLA4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.050 GeneticVariation BEFREE CTLA-4 exon-1 +49A > G (rs231775) polymorphism has been reported to influence the risk for primary biliary cirrhosis (PBC) as well as type I autoimmune hepatitis (AIH-1) in many studies; however, the results still remain controversial and ambiguous. 25942345

2015
dbSNP: rs231775
rs231775
CTLA4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.050 GeneticVariation BEFREE G allele of rs231775 and A allele of rs231725 were significantly associated with the risk of PBC. 23432218

2013
dbSNP: rs231775
rs231775
CTLA4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.050 GeneticVariation BEFREE The G allele of rs231775 is a risk factor for PBC, while AA genotype of rs3087243 and GG, GA and G allele of rs231725 show negative associations with PBC. 22414241

2012
dbSNP: rs231775
rs231775
CTLA4
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.050 GeneticVariation BEFREE The CTLA-4 haplotype 1 (rs231775 G, rs231777 C, rs3087243 G, rs231725 A; GCGA) was a risk factor for PBC susceptibility but a protective factor for PBC progression. 21594562

2011