CEBPA, CCAAT enhancer binding protein alpha, 1050

N. diseases: 201; N. variants: 21
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: rs28931590
rs28931590 		1.000 0.040 19 33302164 missense variant T/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.800 1.000 5 2001 2013
dbSNP: rs41355649
rs41355649 		19 33299650 upstream gene variant G/A snv 3.5E-02
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs1060502121
rs1060502121 		1.000 0.040 19 33302225 frameshift variant TGTCG/- del
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs121912791
rs121912791 		1.000 0.040 19 33302267 stop gained C/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs137852728
rs137852728 		1.000 0.040 19 33302347 frameshift variant G/-;GG delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs137852730
rs137852730 		1.000 0.040 19 33302274 frameshift variant G/- delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs137852731
rs137852731 		1.000 0.040 19 33302213 frameshift variant -/TAGG delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs137852732
rs137852732 		1.000 0.040 19 33302095 frameshift variant -/CA delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs137852733
rs137852733 		1.000 0.040 19 33302197 frameshift variant -/G ins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs1555741948
rs1555741948 		1.000 0.040 19 33301423 inframe insertion -/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs1555741967
rs1555741967 		1.000 0.040 19 33301463 inframe insertion -/GCTCCAGCACCTTCTGCTGCGTCTCCA delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs1555742213
rs1555742213 		1.000 0.040 19 33302076 frameshift variant GGGCGCGC/- delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs1555742295
rs1555742295 		1.000 0.040 19 33302295 frameshift variant -/G delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs587776848
rs587776848 		1.000 0.040 19 33302294 frameshift variant GCGGGGC/- delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs587776849
rs587776849 		1.000 0.040 19 33302200 frameshift variant -/CCGG delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs1189516787
rs1189516787 		0.882 0.120 19 33301681 missense variant C/G snv 7.1E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1189516787
rs1189516787 		0.882 0.120 19 33301681 missense variant C/G snv 7.1E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1189516787
rs1189516787 		0.882 0.120 19 33301681 missense variant C/G snv 7.1E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12691
rs12691 		0.925 0.080 19 33300221 3 prime UTR variant G/A snv 0.16
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs12691
rs12691 		0.925 0.080 19 33300221 3 prime UTR variant G/A snv 0.16
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1356845856
rs1356845856 		1.000 0.040 19 33302132 missense variant C/T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs1448996395
rs1448996395 		1.000 0.040 19 33302476 5 prime UTR variant C/T snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs34529039
rs34529039 		0.882 0.120 19 33301725 synonymous variant C/A snv 0.19 0.16
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs34529039
rs34529039 		0.882 0.120 19 33301725 synonymous variant C/A snv 0.19 0.16
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs34529039
rs34529039 		0.882 0.120 19 33301725 synonymous variant C/A snv 0.19 0.16
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016