BACH2, BTB domain and CNC homolog 2, 60468

N. diseases: 130; N. variants: 33
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: rs2474619
rs2474619 		0.882 0.360 6 90170316 intron variant C/A snv 0.72
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2474619
rs2474619 		0.882 0.360 6 90170316 intron variant C/A snv 0.72
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3757247
rs3757247 		0.827 0.320 6 90247744 intron variant C/T snv 0.38
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs3757247
rs3757247 		0.827 0.320 6 90247744 intron variant C/T snv 0.38
CUI: C0271737
Disease: Addison's disease due to autoimmunity
Addison's disease due to autoimmunity 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3757247
rs3757247 		0.827 0.320 6 90247744 intron variant C/T snv 0.38
CUI: C2103602
Disease: Autoimmune Primary Adrenal Insufficiency
Autoimmune Primary Adrenal Insufficiency 		Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9111
rs9111 		1.000 0.040 6 90271934 5 prime UTR variant C/G;T snv
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9344996
rs9344996 		1.000 0.120 6 90219582 intron variant T/C snv 9.3E-02
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014