Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800693
rs1800693
0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 3 2011 2015
dbSNP: rs4149581
rs4149581
1.000 0.080 12 6337819 intron variant T/A;C snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs1860545
rs1860545
0.790 0.200 12 6337611 intron variant G/A snv 0.31
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs4149576
rs4149576
0.882 0.200 12 6339949 intron variant C/T snv 0.32
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4149580
rs4149580
1.000 0.080 12 6337824 intron variant G/A snv 0.30
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs767455
rs767455
0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012