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: 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: 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: 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: 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: 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: rs77239429
rs77239429 		1.000 0.080 5 158878066 intron variant A/G;T snv
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs929626
rs929626 		0.925 0.120 5 158883623 intron variant A/G snv 0.40
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: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 1 2017 2017
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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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: 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