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: rs146644295
rs146644295 		1.000 0.080 17 39418339 intron variant G/C snv 2.5E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
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: rs6503513
rs6503513 		1.000 0.080 17 39405360 3 prime UTR variant A/G snv 0.33
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs7212715
rs7212715 		17 39451651 upstream gene variant C/T snv 0.62
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs7212715
rs7212715 		17 39451651 upstream gene variant C/T snv 0.62
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
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