SPIB, Spi-B transcription factor, 6689

N. diseases: 58; 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: rs3745516
rs3745516 		0.925 0.080 19 50423485 intron variant A/G snv 0.62
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 3 2010 2015
dbSNP: rs3745516
rs3745516 		0.925 0.080 19 50423485 intron variant A/G snv 0.62
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 2 2010 2011
dbSNP: rs1726773
rs1726773 		1.000 0.080 19 50424313 intron variant T/C;G snv
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: rs34944112
rs34944112 		1.000 0.080 19 50423308 intron variant C/T snv 0.11
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs777018011
rs777018011 		1.000 0.080 19 50417229 missense variant C/T snv 8.5E-06
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2020 2020