CEBPA, CCAAT enhancer binding protein alpha, 1050

N. diseases: 201; N. variants: 21
Disease: Leukemia, Myelocytic, Acute ×
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: 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: 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: rs919904139
rs919904139 		1.000 0.040 19 33302027 missense variant C/T snv 2.0E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2013 2013