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: 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: 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: 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: 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: 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: 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: rs368910700
rs368910700 		5 158894394 intron variant -/TAAA ins 0.32
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4594837
rs4594837 		5 158840966 intron variant A/C snv 0.38
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
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: 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: 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: 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: 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
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