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: rs1847472
rs1847472 		0.807 0.200 6 90263440 intron variant C/A snv 0.25
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1847472
rs1847472 		0.807 0.200 6 90263440 intron variant C/A snv 0.25
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1847472
rs1847472 		0.807 0.200 6 90263440 intron variant C/A snv 0.25
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1847472
rs1847472 		0.807 0.200 6 90263440 intron variant C/A snv 0.25
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1847472
rs1847472 		0.807 0.200 6 90263440 intron variant C/A snv 0.25
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs206913
rs206913 		6 90227175 intron variant C/A snv 0.70
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs2134814
rs2134814 		6 90277793 intron variant C/G snv 0.26
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2134814
rs2134814 		6 90277793 intron variant C/G snv 0.26
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs2325291
rs2325291 		1.000 0.080 6 90276967 intron variant G/A snv 0.25
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs367983479
rs367983479 		1.000 0.080 6 90291614 intron variant AAAA/-;AA;AAA;AAAAA delins 0.32
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs367983479
rs367983479 		1.000 0.080 6 90291614 intron variant AAAA/-;AA;AAA;AAAAA delins 0.32
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs4388268
rs4388268 		6 90025189 intron variant G/A snv 0.28
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs55771973
rs55771973 		6 90271600 intron variant T/A;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs58521088
rs58521088 		0.925 0.080 6 90275479 intron variant A/T snv 0.27
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.700 1.000 1 2019 2019
dbSNP: rs597325
rs597325 		0.925 0.160 6 90292775 intron variant A/G snv 0.69
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs597325
rs597325 		0.925 0.160 6 90292775 intron variant A/G snv 0.69
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs60066732
rs60066732 		6 90225664 intron variant A/G snv 0.27
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs62408225
rs62408225 		1.000 0.120 6 90246690 intron variant A/G snv 0.26
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs62408233
rs62408233 		0.925 0.080 6 90266890 intron variant G/A snv 0.25
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs62408233
rs62408233 		0.925 0.080 6 90266890 intron variant G/A snv 0.25
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs661713
rs661713 		1.000 0.040 6 90266280 intron variant G/A snv 0.69
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs6899623
rs6899623 		1.000 0.080 6 90276840 intron variant A/G snv 0.28
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6908626
rs6908626 		0.882 0.040 6 90296024 intron variant G/A;T snv
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6908626
rs6908626 		0.882 0.040 6 90296024 intron variant G/A;T snv
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6908626
rs6908626 		0.882 0.040 6 90296024 intron variant G/A;T snv
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019