MED1, mediator complex subunit 1, 5469

N. diseases: 88; N. variants: 4
Source: ALL
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: rs6503513
rs6503513
1.000 0.080 17 39405360 3 prime UTR variant A/G snv 0.33
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs9646419
rs9646419
1.000 0.080 17 39440932 intron variant A/G snv 0.78
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011