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: rs1432679
rs1432679 		0.851 0.080 5 158817075 intron variant C/T snv 0.44
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 5 2013 2017
dbSNP: rs1432679
rs1432679 		0.851 0.080 5 158817075 intron variant C/T snv 0.44
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 3 2013 2016
dbSNP: rs929626
rs929626 		0.925 0.120 5 158883623 intron variant A/G snv 0.40
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa 		Mental Disorders 0.710 1.000 1 2017 2017
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: 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: rs10043333
rs10043333 		1.000 0.040 5 158816761 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 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: 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: 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: 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: rs11288072
rs11288072 		1.000 0.080 5 159008453 intron variant A/- del 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 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: 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: rs12652435
rs12652435 		1.000 0.040 5 158827432 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12659540
rs12659540 		5 159095569 intron variant C/A;T snv 0.50; 1.2E-05
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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: rs1368298
rs1368298 		1.000 0.040 5 158777417 synonymous variant A/G snv 0.48 0.56
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1422798
rs1422798 		0.807 0.080 5 158893869 intron variant C/G 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 2017 2017
dbSNP: rs1422798
rs1422798 		0.807 0.080 5 158893869 intron variant C/G 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 2017 2017
dbSNP: rs1422798
rs1422798 		0.807 0.080 5 158893869 intron variant C/G 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 2017 2017
dbSNP: rs1422798
rs1422798 		0.807 0.080 5 158893869 intron variant C/G snv 0.32
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 1 2017 2017
dbSNP: rs1422798
rs1422798 		0.807 0.080 5 158893869 intron variant C/G 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 2017 2017
dbSNP: rs1422798
rs1422798 		0.807 0.080 5 158893869 intron variant C/G 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: rs1422798
rs1422798 		0.807 0.080 5 158893869 intron variant C/G 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 2017 2017