EBF2, EBF transcription factor 2, 64641

N. diseases: 27; N. variants: 12
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: rs11135910
rs11135910 		0.925 0.080 8 26034626 intron variant C/T snv 0.13
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 2 2013 2018
dbSNP: rs1021230
rs1021230 		8 25928927 intron variant A/T snv 0.27
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10866846
rs10866846 		1.000 0.120 8 25988159 intron variant G/A snv 0.32
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11135910
rs11135910 		0.925 0.080 8 26034626 intron variant C/T snv 0.13
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs13256025
rs13256025 		1.000 0.080 8 25974262 intron variant C/T snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4871958
rs4871958 		8 25904700 intron variant G/A snv 0.46
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs55980452
rs55980452 		8 26046363 upstream gene variant G/A snv 0.13
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs55980452
rs55980452 		8 26046363 upstream gene variant G/A snv 0.13
CUI: C0373595
Disease: Creatinine clearance measurement
Creatinine clearance measurement 		0.700 1.000 1 2015 2015
dbSNP: rs6557876
rs6557876 		8 26043159 intron variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs6991952
rs6991952 		8 25849896 intron variant A/G snv 0.49
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2015 2015
dbSNP: rs7008914
rs7008914 		8 26022884 intron variant T/C snv 0.30
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs73563812
rs73563812 		8 26042889 intron variant G/T snv 0.26
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs73563812
rs73563812 		8 26042889 intron variant G/T snv 0.26
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs10866845
rs10866845 		1.000 0.120 8 25850751 synonymous variant T/C snv 0.42 0.49
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs774679542
rs774679542 		1.000 0.080 8 26042168 missense variant G/A snv 4.0E-06
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs774679542
rs774679542 		1.000 0.080 8 26042168 missense variant G/A snv 4.0E-06
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2018 2018