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: rs72928038
rs72928038
0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0042900
Disease: Vitiligo
Vitiligo
Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs72928038
rs72928038
0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs72928038
rs72928038
0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs72928038
rs72928038
0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 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: rs11755527
rs11755527
0.851 0.360 6 90248512 intron variant C/G snv 0.36
Latent Autoimmune Diabetes in Adults
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1504215
rs1504215
1.000 0.120 6 90296508 5 prime UTR variant G/A;C snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder)
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
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: 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: rs10806425
rs10806425
0.851 0.280 6 90216893 intron variant C/A snv 0.33
Non-Hodgkin's lymphoma of central nervous system
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs182491379
rs182491379
6 90129545 intron variant C/T snv 4.3E-03
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs2134814
rs2134814
6 90277793 intron variant C/G snv 0.26
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
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: 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: 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: 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
dbSNP: rs72923978
rs72923978
6 90028558 intron variant C/G;T snv 9.0E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs72925996
rs72925996
6 90220794 intron variant T/A;C snv
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases
Respiratory Tract Diseases 0.700 1.000 1 2019 2019