Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.020 GeneticVariation BEFREE Although no significant differences in clinical or biochemical characteristics between patients with PBC and PBC-AITD were seen (all P>0.05), liver function tests and metabolic traits in PBC patients were significantly (all P<0.05) affected by the CTLA4 (rs3087243), MMEL1 (rs2843403), PTPN22 (rs2476601) and RNASET2 (rs9355610) variants. 28922436

2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.020 GeneticVariation BEFREE We studied 160 Caucasian patients with biopsy and antimitochondrial antibodies (AMA)-proven PBC who were genotyped for the PTPN22(C1858T) SNP using a single-base primer extension assay and mass spectrometry. 16671954

2006