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: 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
dbSNP: rs72928038
rs72928038 		0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		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: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs72928038
rs72928038 		0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0033860
Disease: Psoriasis
Psoriasis 		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: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs72928038
rs72928038 		0.695 0.360 6 90267049 intron variant G/A snv 0.11
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 2015 2015
dbSNP: rs72928038
rs72928038 		0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic 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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal 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: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs72928038
rs72928038 		0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs72928038
rs72928038 		0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
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: rs72928038
rs72928038 		0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs72928038
rs72928038 		0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs72928038
rs72928038 		0.695 0.360 6 90267049 intron variant G/A snv 0.11
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs7754251
rs7754251 		1.000 0.040 6 90279406 intron variant G/A;C snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs905670
rs905670 		1.000 0.040 6 90248783 intron variant G/A snv 0.25
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs9444730
rs9444730 		6 90023618 intron variant T/C;G snv 0.31
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs11755527
rs11755527 		0.851 0.360 6 90248512 intron variant C/G snv 0.36
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 1.000 1 2015 2015
dbSNP: rs12212193
rs12212193 		0.925 0.280 6 90287050 intron variant A/G 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