Gene: TIMMDC1 ×
Source: GWASCAT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2293370
rs2293370
TIMMDC1
A 0.810 GeneticVariation GWASCAT This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of PBC. 30643196

2019
dbSNP: rs2293370
rs2293370
TIMMDC1
A 0.810 GeneticVariation GWASCAT Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. 28062665

2017
dbSNP: rs2293370
rs2293370
TIMMDC1
G 0.810 GeneticVariation GWASCAT International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. 26394269

2015
dbSNP: rs2293370
rs2293370
TIMMDC1
G 0.810 GeneticVariation GWASCAT Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000

2012
dbSNP: rs2293370
rs2293370
TIMMDC1
C 0.810 GeneticVariation GWASCAT Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. 23000144

2012
dbSNP: rs2293370
rs2293370
TIMMDC1
G 0.810 GeneticVariation GWASCAT Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. 21399635

2011