EBF1, EBF transcription factor 1, 1879

N. diseases: 87; N. variants: 43
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: rs36071027
rs36071027 		0.925 0.080 5 159017266 intron variant C/T snv 0.29
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2017 2018
dbSNP: rs10515772
rs10515772 		1.000 0.040 5 158826231 intron variant C/T snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12153596
rs12153596 		5 158983170 non coding transcript exon variant C/T snv 0.30
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs12153596
rs12153596 		5 158983170 non coding transcript exon variant C/T snv 0.30
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1432679
rs1432679 		0.851 0.080 5 158817075 intron variant C/T snv 0.44
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs1432679
rs1432679 		0.851 0.080 5 158817075 intron variant C/T snv 0.44
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs149148360
rs149148360 		5 158990217 intron variant C/T snv 2.0E-03
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs17714087
rs17714087 		1.000 0.040 5 158797067 intron variant C/T snv 3.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17717876
rs17717876 		5 159046359 intron variant C/T snv 2.1E-02
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2015 2015
dbSNP: rs31862
rs31862 		1.000 0.040 5 158795789 intron variant C/T snv 0.17
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs36071027
rs36071027 		0.925 0.080 5 159017266 intron variant C/T snv 0.29
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs36071027
rs36071027 		0.925 0.080 5 159017266 intron variant C/T snv 0.29
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs36071027
rs36071027 		0.925 0.080 5 159017266 intron variant C/T snv 0.29
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10040979
rs10040979 		5 158997383 intron variant G/A snv 0.61
CUI: C3548510
Disease: response to antineoplastic agent
response to antineoplastic agent 		0.700 1.000 1 2013 2013
dbSNP: rs17543668
rs17543668 		1.000 0.080 5 158884635 intron variant G/A snv 7.2E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs17626412
rs17626412 		1.000 0.080 5 158911964 intron variant G/A snv 3.7E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs72643433
rs72643433 		5 158937441 intron variant G/A snv 0.20
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs7734385
rs7734385 		5 159033204 intron variant G/A snv 0.34
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11135046
rs11135046 		0.925 0.120 5 158803005 intron variant G/A;T snv
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.700 1.000 2 2018 2019
dbSNP: rs11135046
rs11135046 		0.925 0.120 5 158803005 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs17718288
rs17718288 		1.000 0.080 5 159061318 intron variant G/C snv 0.44
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs888987
rs888987 		5 159021393 intron variant G/C snv 0.37
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs888987
rs888987 		5 159021393 intron variant G/C snv 0.37
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs17714824
rs17714824 		1.000 0.040 5 158827062 intron variant G/T snv 0.13
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1081073
rs1081073 		1.000 0.080 5 158954504 intron variant T/A snv 0.39
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017