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: rs10515789
rs10515789 		1.000 0.040 5 159079407 intron variant T/G snv 0.11
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1345610
rs1345610 		1.000 0.040 5 158790031 intron variant T/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17543752
rs17543752 		1.000 0.080 5 158905372 intron variant T/C;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs10061900
rs10061900 		1.000 0.040 5 158826534 intron variant T/C snv 0.59
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12651861
rs12651861 		1.000 0.040 5 158811380 intron variant T/C snv 6.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs148992089
rs148992089 		1.000 0.040 5 158952834 intron variant T/C snv 6.1E-03
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs17056301
rs17056301 		5 158844672 intron variant T/C snv 0.20
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs4704963
rs4704963 		1.000 0.040 5 158820370 intron variant T/C snv 5.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs58889466
rs58889466 		5 158826675 intron variant T/C snv 8.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7720275
rs7720275 		1.000 0.040 5 158819642 intron variant T/C snv 0.18
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
dbSNP: rs62385385
rs62385385 		0.807 0.080 5 158940241 intron variant T/A snv 0.32
CUI: C0029489
Disease: Other alopecia
Other alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs62385385
rs62385385 		0.807 0.080 5 158940241 intron variant T/A snv 0.32
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 1 2016 2016
dbSNP: rs62385385
rs62385385 		0.807 0.080 5 158940241 intron variant T/A snv 0.32
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs62385385
rs62385385 		0.807 0.080 5 158940241 intron variant T/A snv 0.32
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs62385385
rs62385385 		0.807 0.080 5 158940241 intron variant T/A snv 0.32
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs62385385
rs62385385 		0.807 0.080 5 158940241 intron variant T/A snv 0.32
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs62385385
rs62385385 		0.807 0.080 5 158940241 intron variant T/A snv 0.32
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
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: 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: 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: 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