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: 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: 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: 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: rs17056278
rs17056278 		0.925 0.040 5 158825430 intron variant C/G snv 5.3E-02
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2015 2015
dbSNP: rs17056278
rs17056278 		0.925 0.040 5 158825430 intron variant C/G snv 5.3E-02
CUI: C0494406
Disease: Reaction to severe stress, and adjustment disorders
Reaction to severe stress, and adjustment disorders 		0.700 1.000 1 2015 2015
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: 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: 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: 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: 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: 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: 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: 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: 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